Revel Score:
ENST00000280772 (MANE Select)
0.408
ENST00000373827
0.408
ENST00000373820
0.408
ENST00000502769
0.408
ENST00000355288
0.408
ENST00000503366
0.408
ENST00000395299
0.408
ENST00000373817
0.408
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60055686T>C , CM000672.2:g.60055686T>C | GRCh38 |
| NC_000010.10:g.61815444T>C , CM000672.1:g.61815444T>C | GRCh37 |
| NC_000010.9:g.61485450T>C | NCBI36 |
| NG_029917.1:g.682841A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.5282A>G | ENSP00000423968.2:p.Glu1761Gly | |
| ENST00000503366.6:c.5510A>G | ENSP00000425236.1:p.Glu1837Gly | |
| ENST00000280772.7:c.13037A>G MANE Select | ENSP00000280772.1:p.Glu4346Gly | |
| ENST00000280772.6:c.13037A>G | ENSP00000280772.1:p.Glu4346Gly | |
| ENST00000355288.6:c.2909A>G | ENSP00000347436.2:p.Glu970Gly | |
| ENST00000373820.5:c.1283A>G | ENSP00000362926.1:p.Glu428Gly | |
| ENST00000373827.6:c.5489A>G | ENSP00000362933.2:p.Glu1830Gly | |
| ENST00000502769.5:c.353A>G | ENSP00000423057.1:p.Glu118Gly | |
| ENST00000503366.5:c.5510A>G | ENSP00000425236.1:p.Glu1837Gly | |
| ENST00000610321.4:c.4833A>G | ||
| ENST00000612776.4:c.442A>G | ||
| ENST00000616444.4:c.2592A>G | ||
| ENST00000617800.4:c.147A>G | ||
| ENST00000618374.4:c.*472A>G | ENSP00000479018.1:n.*472A>G | |
| NM_001149.3:c.2909A>G | NP_001140.2:p.Glu970Gly | |
| NM_001204403.1:c.5489A>G | NP_001191332.1:p.Glu1830Gly | |
| NM_001204404.1:c.5510A>G | NP_001191333.1:p.Glu1837Gly | |
| NM_020987.3:c.13037A>G | NP_066267.2:p.Glu4346Gly | |
| XM_005269715.2:c.5561A>G | XP_005269772.1:p.Glu1854Gly | |
| XM_005269716.2:c.5507A>G | XP_005269773.1:p.Glu1836Gly | |
| XM_006717791.2:c.8183A>G | XP_006717854.1:p.Glu2728Gly | |
| XM_006717793.2:c.8183A>G | XP_006717856.1:p.Glu2728Gly | |
| XM_006717795.2:c.8183A>G | XP_006717858.1:p.Glu2728Gly | |
| XM_006717796.2:c.8183A>G | XP_006717859.1:p.Glu2728Gly | |
| XM_006717802.2:c.5600A>G | XP_006717865.1:p.Glu1867Gly | |
| XM_011539700.1:c.8171A>G | XP_011538002.1:p.Glu2724Gly | |
| XM_011539701.1:c.8165A>G | XP_011538003.1:p.Glu2722Gly | |
| XM_011539702.1:c.8126A>G | XP_011538004.1:p.Glu2709Gly | |
| XM_011539703.1:c.8105A>G | XP_011538005.1:p.Glu2702Gly | |
| XM_011539704.1:c.8084A>G | XP_011538006.1:p.Glu2695Gly | |
| XM_011539705.1:c.8084A>G | XP_011538007.1:p.Glu2695Gly | |
| XM_011539706.1:c.8072A>G | XP_011538008.1:p.Glu2691Gly | |
| XM_011539707.1:c.8183A>G | XP_011538009.1:p.Glu2728Gly | |
| XM_011539708.1:c.8183A>G | XP_011538010.1:p.Glu2728Gly | |
| XM_011539709.1:c.7874A>G | XP_011538011.1:p.Glu2625Gly | |
| XM_011539710.1:c.5600A>G | XP_011538012.1:p.Glu1867Gly | |
| XM_011539711.1:c.5573A>G | XP_011538013.1:p.Glu1858Gly | |
| XM_011539712.1:c.5564A>G | XP_011538014.1:p.Glu1855Gly | |
| XM_011539713.1:c.5537A>G | XP_011538015.1:p.Glu1846Gly | |
| XM_011539714.1:c.5531A>G | XP_011538016.1:p.Glu1844Gly | |
| XM_011539715.1:c.5519A>G | XP_011538017.1:p.Glu1840Gly | |
| XM_011539716.1:c.5393A>G | XP_011538018.1:p.Glu1798Gly | |
| XM_011539717.1:c.5252A>G | XP_011538019.1:p.Glu1751Gly | |
| XM_011539718.1:c.5135A>G | XP_011538020.1:p.Glu1712Gly | |
| NM_001320874.1:c.5507A>G | NP_001307803.1:p.Glu1836Gly | |
| NM_020987.4:c.13037A>G | NP_066267.2:p.Glu4346Gly | |
| XM_005269715.3:c.5561A>G | XP_005269772.1:p.Glu1854Gly | |
| XM_006717796.3:c.8183A>G | XP_006717859.1:p.Glu2728Gly | |
| XM_006717802.3:c.5600A>G | XP_006717865.1:p.Glu1867Gly | |
| XM_011539708.2:c.8183A>G | XP_011538010.1:p.Glu2728Gly | |
| XM_011539709.2:c.7874A>G | XP_011538011.1:p.Glu2625Gly | |
| XM_017016110.1:c.13418A>G | XP_016871599.1:p.Glu4473Gly | |
| XM_017016111.1:c.13406A>G | XP_016871600.1:p.Glu4469Gly | |
| XM_017016112.1:c.13403A>G | XP_016871601.1:p.Glu4468Gly | |
| XM_017016113.1:c.13391A>G | XP_016871602.1:p.Glu4464Gly | |
| XM_017016114.1:c.13367A>G | XP_016871603.1:p.Glu4456Gly | |
| XM_017016115.1:c.13340A>G | XP_016871604.1:p.Glu4447Gly | |
| XM_017016116.1:c.13109A>G | XP_016871605.1:p.Glu4370Gly | |
| XM_017016117.1:c.13109A>G | XP_016871606.1:p.Glu4370Gly | |
| XM_017016118.1:c.12077A>G | XP_016871607.1:p.Glu4026Gly | |
| XM_017016119.1:c.11768A>G | XP_016871608.1:p.Glu3923Gly | |
| XM_017016120.1:c.11768A>G | XP_016871609.1:p.Glu3923Gly | |
| XM_017016121.1:c.11741A>G | XP_016871610.1:p.Glu3914Gly | |
| XM_017016122.1:c.8090A>G | XP_016871611.1:p.Glu2697Gly | |
| XM_017016123.1:c.7874A>G | XP_016871612.1:p.Glu2625Gly | |
| XM_017016124.1:c.7847A>G | XP_016871613.1:p.Glu2616Gly | |
| XM_017016125.1:c.7847A>G | XP_016871614.1:p.Glu2616Gly | |
| XM_017016126.1:c.7742A>G | XP_016871615.1:p.Glu2581Gly | |
| XM_017016127.1:c.7715A>G | XP_016871616.1:p.Glu2572Gly | |
| XM_017016128.1:c.5573A>G | XP_016871617.1:p.Glu1858Gly | |
| XM_017016129.1:c.5573A>G | XP_016871618.1:p.Glu1858Gly | |
| XM_017016130.1:c.5507A>G | XP_016871619.1:p.Glu1836Gly | |
| XM_017016131.1:c.5492A>G | XP_016871620.1:p.Glu1831Gly | |
| XM_017016132.1:c.5471A>G | XP_016871621.1:p.Glu1824Gly | |
| XM_017016134.1:c.5441A>G | XP_016871623.1:p.Glu1814Gly | |
| XM_017016136.1:c.5291A>G | XP_016871625.1:p.Glu1764Gly | |
| XM_017016137.1:c.5264A>G | XP_016871626.1:p.Glu1755Gly | |
| XM_017016138.1:c.5264A>G | XP_016871627.1:p.Glu1755Gly | |
| XM_017016141.1:c.5159A>G | XP_016871630.1:p.Glu1720Gly | |
| XM_024447953.1:c.13391A>G | XP_024303721.1:p.Glu4464Gly | |
| XM_024447954.1:c.13364A>G | XP_024303722.1:p.Glu4455Gly | |
| XM_024447955.1:c.13355A>G | XP_024303723.1:p.Glu4452Gly | |
| XM_024447956.1:c.13352A>G | XP_024303724.1:p.Glu4451Gly | |
| XM_024447957.1:c.13319A>G | XP_024303725.1:p.Glu4440Gly | |
| XM_024447958.1:c.13301A>G | XP_024303726.1:p.Glu4434Gly | |
| XM_024447959.1:c.13301A>G | XP_024303727.1:p.Glu4434Gly | |
| XM_024447960.1:c.13289A>G | XP_024303728.1:p.Glu4430Gly | |
| XM_024447961.1:c.13286A>G | XP_024303729.1:p.Glu4429Gly | |
| XM_024447962.1:c.12317A>G | XP_024303730.1:p.Glu4106Gly | |
| XM_024447963.1:c.8450A>G | XP_024303731.1:p.Glu2817Gly | |
| XM_024447964.1:c.5804A>G | XP_024303732.1:p.Glu1935Gly | |
| XM_024447965.1:c.5564A>G | XP_024303733.1:p.Glu1855Gly | |
| NM_020987.5:c.13037A>G MANE Select | NP_066267.2:p.Glu4346Gly | |
| NM_001204403.2:c.5489A>G | NP_001191332.1:p.Glu1830Gly | |
| NM_001204404.2:c.5510A>G | NP_001191333.1:p.Glu1837Gly | |
| NM_001320874.2:c.5507A>G | NP_001307803.1:p.Glu1836Gly | |
| NM_001149.4:c.2909A>G | NP_001140.2:p.Glu970Gly |