Linked Data
ClinVar Variation Id:
431139
ClinVar RCV Id:
RCV000496172
dbSNP Id:
rs1135401809
PubMed:
PMID:28708303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45076827G>C , CM000685.2:g.45076827G>C | GRCh38 |
| NC_000023.10:g.44936072G>C , CM000685.1:g.44936072G>C | GRCh37 |
| NC_000023.9:g.44821016G>C | NCBI36 |
| NG_016260.1:g.208650G>C , LRG_616:g.208650G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.2501+1G>C | ENSP00000478793.1:n.2501+1G>C | |
| ENST00000682908.1:c.2732+1G>C | ENSP00000508158.1:n.2732+1G>C | |
| ENST00000683021.1:c.2751+1G>C | ENSP00000507416.1:n.2751+1G>C | |
| ENST00000683425.1:c.*2315+1G>C | ENSP00000507291.1:n.*2315+1G>C | |
| ENST00000684352.1:c.2762+1G>C | ENSP00000508379.1:n.2762+1G>C | |
| ENST00000377967.9:c.2832+1G>C | ENSP00000367203.4:n.2832+1G>C | |
| ENST00000382899.9:c.2853+1G>C | ENSP00000372355.6:n.2853+1G>C | |
| ENST00000536777.6:c.2697+1G>C | ENSP00000437405.3:n.2697+1G>C | |
| ENST00000543216.6:c.2595+1G>C | ENSP00000443078.3:n.2595+1G>C | |
| ENST00000611820.5:c.2988+1G>C MANE Select | ENSP00000483595.2:n.2988+1G>C | |
| ENST00000674541.1:c.*2120+1G>C | ENSP00000501919.1:n.*2120+1G>C | |
| ENST00000674564.1:c.2751+1G>C | ENSP00000502150.1:n.2751+1G>C | |
| ENST00000674586.1:c.2910+1G>C | ENSP00000502660.1:n.2910+1G>C | |
| ENST00000674659.1:c.*2276+1G>C | ENSP00000502255.1:n.*2276+1G>C | |
| ENST00000674739.1:n.3890+1G>C | ||
| ENST00000674867.1:c.2694+1G>C | ENSP00000502060.1:n.2694+1G>C | |
| ENST00000675157.1:n.2439+1G>C | ||
| ENST00000675182.1:n.2872+1G>C | ||
| ENST00000675440.1:n.3008+1G>C | ||
| ENST00000675514.1:c.2832+1G>C | ENSP00000502759.1:n.2832+1G>C | |
| ENST00000675525.1:n.4954+1G>C | ||
| ENST00000675546.1:n.9538+1G>C | ||
| ENST00000675577.1:c.2730+1G>C | ENSP00000501855.1:n.2730+1G>C | |
| ENST00000675816.1:n.3008+1G>C | ||
| ENST00000676062.1:c.2853+1G>C | ENSP00000502311.1:n.2853+1G>C | |
| ENST00000676085.1:c.*2018+1G>C | ENSP00000501752.1:n.*2018+1G>C | |
| ENST00000676133.1:c.*2885+1G>C | ENSP00000502586.1:n.*2885+1G>C | |
| ENST00000676343.1:c.2853+1G>C | ENSP00000501761.1:n.2853+1G>C | |
| ENST00000676389.1:n.3275+1G>C | ||
| ENST00000377967.8:c.2832+1G>C | ENSP00000367203.4:n.2832+1G>C | |
| ENST00000382899.8:c.2781+1G>C | ENSP00000372355.5:n.2781+1G>C | |
| ENST00000414389.5:c.1624+1G>C | ||
| ENST00000433797.5:c.1759+1G>C | ||
| ENST00000536777.5:c.2625+1G>C | ENSP00000437405.2:n.2625+1G>C | |
| ENST00000543216.5:c.2679+1G>C | ENSP00000443078.2:n.2679+1G>C | |
| ENST00000611820.4:c.2916+1G>C | ENSP00000483595.1:n.2916+1G>C | |
| ENST00000621147.4:c.2501+1G>C | ENSP00000478793.1:n.2501+1G>C | |
| NM_001291415.1:c.2988+1G>C , LRG_616t1:c.2988+1G>C | NP_001278344.1:n.2988+1G>C | |
| NM_001291416.1:c.2853+1G>C | NP_001278345.1:n.2853+1G>C | |
| NM_001291417.1:c.2697+1G>C | NP_001278346.1:n.2697+1G>C | |
| NM_001291418.1:c.2595+1G>C | NP_001278347.1:n.2595+1G>C | |
| NM_001291421.1:c.1944+1G>C | NP_001278350.1:n.1944+1G>C | |
| NM_021140.3:c.2832+1G>C | NP_066963.2:n.2832+1G>C | |
| NR_111960.1:n.3128+1G>C | ||
| XM_005272656.3:c.2886+1G>C | XP_005272713.1:n.2886+1G>C | |
| XM_005272659.3:c.2730+1G>C | XP_005272716.1:n.2730+1G>C | |
| XM_011543957.1:c.3045+1G>C | XP_011542259.1:n.3045+1G>C | |
| XM_011543958.1:c.2988+1G>C | XP_011542260.1:n.2988+1G>C | |
| XM_011543959.1:c.2943+1G>C | XP_011542261.1:n.2943+1G>C | |
| XM_011543960.1:c.3045+1G>C | XP_011542262.1:n.3045+1G>C | |
| XM_011543961.1:c.2910+1G>C | XP_011542263.1:n.2910+1G>C | |
| XM_011543962.1:c.2889+1G>C | XP_011542264.1:n.2889+1G>C | |
| XM_011543963.1:c.2853+1G>C | XP_011542265.1:n.2853+1G>C | |
| XM_011543964.1:c.2832+1G>C | XP_011542266.1:n.2832+1G>C | |
| XM_011543965.1:c.2808+1G>C | XP_011542267.1:n.2808+1G>C | |
| XM_011543966.1:c.2787+1G>C | XP_011542268.1:n.2787+1G>C | |
| XM_011543967.1:c.2889+1G>C | XP_011542269.1:n.2889+1G>C | |
| XM_011543968.1:c.2754+1G>C | XP_011542270.1:n.2754+1G>C | |
| XM_011543969.1:c.2751+1G>C | XP_011542271.1:n.2751+1G>C | |
| XM_011543970.1:c.2730+1G>C | XP_011542272.1:n.2730+1G>C | |
| XM_011543971.1:c.2808+1G>C | XP_011542273.1:n.2808+1G>C | |
| XM_011543972.1:c.2697+1G>C | XP_011542274.1:n.2697+1G>C | |
| XM_011543973.1:c.2754+1G>C | XP_011542275.1:n.2754+1G>C | |
| XM_011543974.1:c.2832+1G>C | XP_011542276.1:n.2832+1G>C | |
| XM_011543975.1:c.2235+1G>C | XP_011542277.1:n.2235+1G>C | |
| XM_011543976.1:c.3045+1G>C | XP_011542278.1:n.3045+1G>C | |
| XR_949018.1:n.3422+1G>C | ||
| XM_005272656.5:c.2886+1G>C | XP_005272713.1:n.2886+1G>C | |
| XM_005272659.5:c.2730+1G>C | XP_005272716.1:n.2730+1G>C | |
| XM_011543958.3:c.2988+1G>C | XP_011542260.1:n.2988+1G>C | |
| XM_011543963.3:c.2853+1G>C | XP_011542265.1:n.2853+1G>C | |
| XM_011543964.3:c.2832+1G>C | XP_011542266.1:n.2832+1G>C | |
| XM_011543969.3:c.2751+1G>C | XP_011542271.1:n.2751+1G>C | |
| XM_011543970.3:c.2730+1G>C | XP_011542272.1:n.2730+1G>C | |
| XM_011543972.3:c.2697+1G>C | XP_011542274.1:n.2697+1G>C | |
| XM_011543974.2:c.2832+1G>C | XP_011542276.1:n.2832+1G>C | |
| XM_011543975.2:c.2235+1G>C | XP_011542277.1:n.2235+1G>C | |
| XM_017029783.2:c.2751+1G>C | XP_016885272.1:n.2751+1G>C | |
| XM_017029784.1:c.2100+1G>C | XP_016885273.1:n.2100+1G>C | |
| XM_017029785.1:c.1842+1G>C | XP_016885274.1:n.1842+1G>C | |
| XM_024452438.1:c.2886+1G>C | XP_024308206.1:n.2886+1G>C | |
| XM_024452439.1:c.2463+1G>C | XP_024308207.1:n.2463+1G>C | |
| XR_002958804.1:n.3358+1G>C | ||
| NM_001291415.2:c.2988+1G>C MANE Select | NP_001278344.1:n.2988+1G>C | |
| NM_001291416.2:c.2853+1G>C | NP_001278345.1:n.2853+1G>C | |
| NM_001291417.2:c.2697+1G>C | NP_001278346.1:n.2697+1G>C | |
| NM_001291418.2:c.2595+1G>C | NP_001278347.1:n.2595+1G>C | |
| NM_001291421.2:c.1944+1G>C | NP_001278350.1:n.1944+1G>C | |
| NM_021140.4:c.2832+1G>C | NP_066963.2:n.2832+1G>C | |
| NR_111960.2:n.3115+1G>C |