Linked Data
ClinVar Variation Id:
5002
ClinVar RCV Id:
RCV000005296
RCV000033215
RCV000190885
RCV000202537
RCV000517563
RCV000856933
RCV001027476
RCV002415400
dbSNP Id:
rs267607146
gnomAD v2:
12-110238471-G-A
gnomAD v3:
12-109800666-G-A
gnomAD v4:
12-109800666-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109800666G>A , CM000674.2:g.109800666G>A | GRCh38 |
| NC_000012.11:g.110238471G>A , CM000674.1:g.110238471G>A | GRCh37 |
| NC_000012.10:g.108722854G>A | NCBI36 |
| NG_017090.1:g.37742C>T , LRG_372:g.37742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.805C>T MANE Select | ENSP00000261740.2:p.Arg269Cys | |
| ENST00000418703.7:c.805C>T | ENSP00000406191.2:p.Arg269Cys | |
| ENST00000674908.1:c.834C>T | ENSP00000502012.1:p.Pro278= | |
| ENST00000675533.1:n.836C>T | ||
| ENST00000675670.1:c.805C>T | ENSP00000502135.1:p.Arg269Cys | |
| ENST00000676376.1:n.836C>T | ||
| ENST00000261740.6:c.805C>T | ENSP00000261740.2:p.Arg269Cys | |
| ENST00000418703.6:c.805C>T | ENSP00000406191.2:p.Arg269Cys | |
| ENST00000536838.1:c.703C>T | ENSP00000444336.1:p.Arg235Cys | |
| ENST00000537083.5:c.805C>T | ENSP00000442738.1:p.Arg269Cys | |
| ENST00000538125.5:c.805C>T | ENSP00000437449.1:p.Arg269Cys | |
| ENST00000541794.5:c.713-1754C>T | ENSP00000442167.1:n.713-1754C>T | |
| ENST00000544971.5:c.713-1754C>T | ENSP00000443611.1:n.713-1754C>T | |
| NM_001177428.1:c.713-1754C>T | NP_001170899.1:n.713-1754C>T | |
| NM_001177431.1:c.703C>T | NP_001170902.1:p.Arg235Cys | |
| NM_001177433.1:c.713-1754C>T | NP_001170904.1:n.713-1754C>T | |
| NM_021625.4:c.805C>T , LRG_372t1:c.805C>T | NP_067638.3:p.Arg269Cys | |
| NM_147204.2:c.805C>T | NP_671737.1:p.Arg269Cys | |
| XM_005253918.1:c.805C>T | XP_005253975.1:p.Arg269Cys | |
| XM_011538630.1:c.805C>T | XP_011536932.1:p.Arg269Cys | |
| XM_011538631.1:c.713-1754C>T | XP_011536933.1:n.713-1754C>T | |
| XM_011538632.1:c.805C>T | XP_011536934.1:p.Arg269Cys | |
| XM_011538633.1:c.713-1754C>T | XP_011536935.1:n.713-1754C>T | |
| XM_011538634.1:c.805C>T | XP_011536936.1:p.Arg269Cys | |
| XM_011538635.1:c.958C>T | XP_011536937.1:p.Arg320Cys | |
| XM_011538636.1:c.958C>T | XP_011536938.1:p.Arg320Cys | |
| XM_011538630.2:c.958C>T | XP_011536932.2:p.Arg320Cys | |
| XM_011538631.2:c.866-1754C>T | XP_011536933.2:n.866-1754C>T | |
| XM_011538632.2:c.958C>T | XP_011536934.2:p.Arg320Cys | |
| XM_011538633.2:c.866-1754C>T | XP_011536935.2:n.866-1754C>T | |
| XM_011538634.2:c.958C>T | XP_011536936.2:p.Arg320Cys | |
| XM_011538635.2:c.958C>T | XP_011536937.1:p.Arg320Cys | |
| XM_017019774.1:c.805C>T | XP_016875263.1:p.Arg269Cys | |
| NM_021625.5:c.805C>T MANE Select | NP_067638.3:p.Arg269Cys |