Linked Data
ClinVar Variation Id:
517843
ClinVar RCV Id:
RCV000696233
RCV001114139
RCV001114135
RCV001114136
RCV001114137
RCV001114138
RCV001698442
RCV002360479
dbSNP Id:
rs371280831
ExAC:
12:110240857 C / T
gnomAD v2:
12-110240857-C-T
gnomAD v3:
12-109803052-C-T
gnomAD v4:
12-109803052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109803052C>T , CM000674.2:g.109803052C>T | GRCh38 |
| NC_000012.11:g.110240857C>T , CM000674.1:g.110240857C>T | GRCh37 |
| NC_000012.10:g.108725240C>T | NCBI36 |
| NG_017090.1:g.35356G>A , LRG_372:g.35356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.651G>A MANE Select | ENSP00000261740.2:p.Ala217= | |
| ENST00000418703.7:c.651G>A | ENSP00000406191.2:p.Ala217= | |
| ENST00000674908.1:c.651G>A | ENSP00000502012.1:p.Ala217= | |
| ENST00000675533.1:n.682G>A | ||
| ENST00000675670.1:c.651G>A | ENSP00000502135.1:p.Ala217= | |
| ENST00000676376.1:n.682G>A | ||
| ENST00000261740.6:c.651G>A | ENSP00000261740.2:p.Ala217= | |
| ENST00000418703.6:c.651G>A | ENSP00000406191.2:p.Ala217= | |
| ENST00000536838.1:c.549G>A | ENSP00000444336.1:p.Ala183= | |
| ENST00000537083.5:c.651G>A | ENSP00000442738.1:p.Ala217= | |
| ENST00000538125.5:c.651G>A | ENSP00000437449.1:p.Ala217= | |
| ENST00000541794.5:c.651G>A | ENSP00000442167.1:p.Ala217= | |
| ENST00000544971.5:c.651G>A | ENSP00000443611.1:p.Ala217= | |
| NM_001177428.1:c.651G>A | NP_001170899.1:p.Ala217= | |
| NM_001177431.1:c.549G>A | NP_001170902.1:p.Ala183= | |
| NM_001177433.1:c.651G>A | NP_001170904.1:p.Ala217= | |
| NM_021625.4:c.651G>A , LRG_372t1:c.651G>A | NP_067638.3:p.Ala217= | |
| NM_147204.2:c.651G>A | NP_671737.1:p.Ala217= | |
| XM_005253918.1:c.651G>A | XP_005253975.1:p.Ala217= | |
| XM_011538630.1:c.651G>A | XP_011536932.1:p.Ala217= | |
| XM_011538631.1:c.651G>A | XP_011536933.1:p.Ala217= | |
| XM_011538632.1:c.651G>A | XP_011536934.1:p.Ala217= | |
| XM_011538633.1:c.651G>A | XP_011536935.1:p.Ala217= | |
| XM_011538634.1:c.651G>A | XP_011536936.1:p.Ala217= | |
| XM_011538635.1:c.804G>A | XP_011536937.1:p.Ala268= | |
| XM_011538636.1:c.804G>A | XP_011536938.1:p.Ala268= | |
| XM_011538630.2:c.804G>A | XP_011536932.2:p.Ala268= | |
| XM_011538631.2:c.804G>A | XP_011536933.2:p.Ala268= | |
| XM_011538632.2:c.804G>A | XP_011536934.2:p.Ala268= | |
| XM_011538633.2:c.804G>A | XP_011536935.2:p.Ala268= | |
| XM_011538634.2:c.804G>A | XP_011536936.2:p.Ala268= | |
| XM_011538635.2:c.804G>A | XP_011536937.1:p.Ala268= | |
| XM_017019774.1:c.651G>A | XP_016875263.1:p.Ala217= | |
| NM_021625.5:c.651G>A MANE Select | NP_067638.3:p.Ala217= |