Linked Data
ClinVar Variation Id:
4994
ClinVar RCV Id:
RCV000005282
RCV000005283
RCV000202560
RCV000498625
RCV000691603
RCV001618207
RCV002243623
RCV002512802
dbSNP Id:
rs77975504
gnomAD v4:
12-109792695-C-T
COSMIC:
COSM1358652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109792695C>T , CM000674.2:g.109792695C>T | GRCh38 |
| NC_000012.11:g.110230500C>T , CM000674.1:g.110230500C>T | GRCh37 |
| NC_000012.10:g.108714883C>T | NCBI36 |
| NG_017090.1:g.45713G>A , LRG_372:g.45713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1781G>A MANE Select | ENSP00000261740.2:p.Arg594His | |
| ENST00000418703.7:c.1781G>A | ENSP00000406191.2:p.Arg594His | |
| ENST00000674908.1:c.*868G>A | ENSP00000502012.1:n.*868G>A | |
| ENST00000675533.1:n.1812G>A | ||
| ENST00000675670.1:c.1781G>A | ENSP00000502135.1:p.Arg594His | |
| ENST00000676376.1:n.1812G>A | ||
| ENST00000261740.6:c.1781G>A | ENSP00000261740.2:p.Arg594His | |
| ENST00000418703.6:c.1781G>A | ENSP00000406191.2:p.Arg594His | |
| ENST00000536838.1:c.1679G>A | ENSP00000444336.1:p.Arg560His | |
| ENST00000537083.5:c.1601G>A | ENSP00000442738.1:p.Arg534His | |
| ENST00000538125.5:c.*164G>A | ENSP00000437449.1:n.*164G>A | |
| ENST00000541794.5:c.1640G>A | ENSP00000442167.1:p.Arg547His | |
| ENST00000544971.5:c.1460G>A | ENSP00000443611.1:p.Arg487His | |
| NM_001177428.1:c.1640G>A | NP_001170899.1:p.Arg547His | |
| NM_001177431.1:c.1679G>A | NP_001170902.1:p.Arg560His | |
| NM_001177433.1:c.1460G>A | NP_001170904.1:p.Arg487His | |
| NM_021625.4:c.1781G>A , LRG_372t1:c.1781G>A | NP_067638.3:p.Arg594His | |
| NM_147204.2:c.1601G>A | NP_671737.1:p.Arg534His | |
| XM_005253918.1:c.1781G>A | XP_005253975.1:p.Arg594His | |
| XM_011538630.1:c.1781G>A | XP_011536932.1:p.Arg594His | |
| XM_011538631.1:c.1640G>A | XP_011536933.1:p.Arg547His | |
| XM_011538632.1:c.1601G>A | XP_011536934.1:p.Arg534His | |
| XM_011538633.1:c.1460G>A | XP_011536935.1:p.Arg487His | |
| XM_011538634.1:c.1781G>A | XP_011536936.1:p.Arg594His | |
| XM_011538635.1:c.1934G>A | XP_011536937.1:p.Arg645His | |
| XM_011538636.1:c.*72G>A | XP_011536938.1:n.*72G>A | |
| XM_011538630.2:c.1934G>A | XP_011536932.2:p.Arg645His | |
| XM_011538631.2:c.1793G>A | XP_011536933.2:p.Arg598His | |
| XM_011538632.2:c.1754G>A | XP_011536934.2:p.Arg585His | |
| XM_011538633.2:c.1613G>A | XP_011536935.2:p.Arg538His | |
| XM_011538634.2:c.1934G>A | XP_011536936.2:p.Arg645His | |
| XM_011538635.2:c.1934G>A | XP_011536937.1:p.Arg645His | |
| XM_017019774.1:c.1781G>A | XP_016875263.1:p.Arg594His | |
| NM_021625.5:c.1781G>A MANE Select | NP_067638.3:p.Arg594His |