Linked Data
ClinVar Variation Id:
354164
dbSNP Id:
rs335614
ExAC:
5:76708987 A / G
gnomAD v2:
5-76708987-A-G
gnomAD v3:
5-77413162-A-G
gnomAD v4:
5-77413162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77413162A>G , CM000667.2:g.77413162A>G | GRCh38 |
| NC_000005.9:g.76708987A>G , CM000667.1:g.76708987A>G | GRCh37 |
| NC_000005.8:g.76744743A>G | NCBI36 |
| NG_023364.1:g.207282A>G | |
| NG_023364.2:g.237911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.1764A>G MANE Select | ENSP00000264917.6:p.Glu588= | |
| ENST00000646262.1:c.1392A>G | ENSP00000493971.1:p.Glu464= | |
| ENST00000264917.9:c.1764A>G | ENSP00000264917.5:p.Glu588= | |
| ENST00000333194.8:c.1599A>G | ENSP00000331336.4:p.Glu533= | |
| ENST00000340978.7:c.1623A>G | ENSP00000345446.3:p.Glu541= | |
| ENST00000342343.8:c.1704A>G | ENSP00000345646.4:p.Glu568= | |
| ENST00000346042.7:c.1473A>G | ENSP00000330428.3:p.Glu491= | |
| ENST00000505283.1:c.159A>G | ENSP00000423461.1:p.Glu53= | |
| NM_001029851.2:c.1473A>G | NP_001025022.1:p.Glu491= | |
| NM_001029852.2:c.1599A>G | NP_001025023.1:p.Glu533= | |
| NM_001029853.2:c.1704A>G | NP_001025024.1:p.Glu568= | |
| NM_001029854.2:c.1623A>G | NP_001025025.1:p.Glu541= | |
| NM_003719.3:c.1764A>G | NP_003710.1:p.Glu588= | |
| XM_005248621.3:c.1761A>G | XP_005248678.1:p.Glu587= | |
| XM_005248623.3:c.1461A>G | XP_005248680.1:p.Glu487= | |
| XM_005248624.3:c.1458A>G | XP_005248681.1:p.Glu486= | |
| XM_006714725.2:c.1827A>G | XP_006714788.1:p.Glu609= | |
| XM_006714726.2:c.1824A>G | XP_006714789.1:p.Glu608= | |
| XM_011543699.1:c.1827A>G | XP_011542001.1:p.Glu609= | |
| XM_011543700.1:c.1536A>G | XP_011542002.1:p.Glu512= | |
| XM_011543701.1:c.1524A>G | XP_011542003.1:p.Glu508= | |
| XM_011543702.1:c.1431A>G | XP_011542004.1:p.Glu477= | |
| XM_011543703.1:c.1449A>G | XP_011542005.1:p.Glu483= | |
| XM_011543704.1:c.1050A>G | XP_011542006.1:p.Glu350= | |
| NM_001349748.1:c.1761A>G | NP_001336677.1:p.Glu587= | |
| NM_001349749.1:c.1827A>G | NP_001336678.1:p.Glu609= | |
| NM_001349750.1:c.1524A>G | NP_001336679.1:p.Glu508= | |
| NM_001349751.1:c.1761A>G | NP_001336680.1:p.Glu587= | |
| NM_001349752.1:c.1458A>G | NP_001336681.1:p.Glu486= | |
| NM_001349753.1:c.1392A>G | NP_001336682.1:p.Glu464= | |
| XM_005248623.4:c.1461A>G | XP_005248680.1:p.Glu487= | |
| XM_006714726.3:c.1824A>G | XP_006714789.1:p.Glu608= | |
| XM_011543699.3:c.1827A>G | XP_011542001.1:p.Glu609= | |
| XM_011543700.3:c.1536A>G | XP_011542002.1:p.Glu512= | |
| XM_011543704.2:c.1050A>G | XP_011542006.1:p.Glu350= | |
| XM_017010005.2:c.1470A>G | XP_016865494.1:p.Glu490= | |
| XM_017010007.2:c.1461A>G | XP_016865496.1:p.Glu487= | |
| XM_017010008.2:c.1170A>G | XP_016865497.1:p.Glu390= | |
| XM_024446253.1:c.1392A>G | XP_024302021.1:p.Glu464= | |
| XM_024446254.1:c.1101A>G | XP_024302022.1:p.Glu367= | |
| NM_001029851.4:c.1473A>G | NP_001025022.1:p.Glu491= | |
| NM_001029852.4:c.1599A>G | NP_001025023.1:p.Glu533= | |
| NM_001029853.4:c.1704A>G | NP_001025024.1:p.Glu568= | |
| NM_001029854.4:c.1623A>G | NP_001025025.1:p.Glu541= | |
| NM_001349748.3:c.1761A>G | NP_001336677.1:p.Glu587= | |
| NM_001349749.3:c.1827A>G | NP_001336678.1:p.Glu609= | |
| NM_001349750.3:c.1524A>G | NP_001336679.1:p.Glu508= | |
| NM_001349751.3:c.1761A>G | NP_001336680.1:p.Glu587= | |
| NM_001349752.3:c.1458A>G | NP_001336681.1:p.Glu486= | |
| NM_001349753.2:c.1392A>G | NP_001336682.1:p.Glu464= | |
| NM_001376062.1:c.1461A>G | NP_001362991.1:p.Glu487= | |
| NM_001376063.1:c.1755A>G | NP_001362992.1:p.Glu585= | |
| NM_001376064.1:c.1614A>G | NP_001362993.1:p.Glu538= | |
| NM_001376065.1:c.1470A>G | NP_001362994.1:p.Glu490= | |
| NM_001376066.1:c.1401A>G | NP_001362995.1:p.Glu467= | |
| NM_001376067.1:c.1392A>G | NP_001362996.1:p.Glu464= | |
| NM_001376068.1:c.1392A>G | NP_001362997.1:p.Glu464= | |
| NM_001376069.1:c.1380A>G | NP_001362998.1:p.Glu460= | |
| NM_001376070.1:c.1320A>G | NP_001362999.1:p.Glu440= | |
| NM_001376071.1:c.1317A>G | NP_001363000.1:p.Glu439= | |
| NM_001376072.1:c.1461A>G | NP_001363001.1:p.Glu487= | |
| NM_001376073.1:c.1170A>G | NP_001363002.1:p.Glu390= | |
| NM_001376074.1:c.1110A>G | NP_001363003.1:p.Glu370= | |
| NM_001376075.1:c.1101A>G | NP_001363004.1:p.Glu367= | |
| NM_003719.5:c.1764A>G MANE Select | NP_003710.1:p.Glu588= |