Linked Data
ClinVar Variation Id:
2427929
dbSNP Id:
rs377609636
ExAC:
2:25965359 G / A
gnomAD v2:
2-25965359-G-A
gnomAD v3:
2-25742490-G-A
gnomAD v4:
2-25742490-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742490G>A , CM000664.2:g.25742490G>A | GRCh38 |
| NC_000002.11:g.25965359G>A , CM000664.1:g.25965359G>A | GRCh37 |
| NC_000002.10:g.25818863G>A | NCBI36 |
| NG_052995.1:g.141027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3844C>T | ENSP00000337250.5:p.Arg1282Cys | |
| ENST00000435504.9:c.3847C>T MANE Select | ENSP00000391447.3:p.Arg1283Cys | |
| ENST00000336112.8:c.3763C>T | ENSP00000337250.4:p.Arg1255Cys | |
| ENST00000404843.5:c.2296C>T | ENSP00000383920.1:p.Arg766Cys | |
| ENST00000435504.8:c.3847C>T | ENSP00000391447.3:p.Arg1283Cys | |
| NM_018263.4:c.3847C>T | NP_060733.4:p.Arg1283Cys | |
| XM_006712039.2:c.3481C>T | XP_006712102.1:p.Arg1161Cys | |
| XM_006712040.1:c.3067C>T | XP_006712103.1:p.Arg1023Cys | |
| XM_011532950.1:c.3844C>T | XP_011531252.1:p.Arg1282Cys | |
| XM_011532951.1:c.3673C>T | XP_011531253.1:p.Arg1225Cys | |
| NM_018263.5:c.3847C>T | NP_060733.4:p.Arg1283Cys | |
| XM_006712039.3:c.3481C>T | XP_006712102.1:p.Arg1161Cys | |
| XM_006712040.2:c.3067C>T | XP_006712103.1:p.Arg1023Cys | |
| XM_011532950.3:c.3844C>T | XP_011531252.1:p.Arg1282Cys | |
| XM_011532951.2:c.3673C>T | XP_011531253.1:p.Arg1225Cys | |
| XM_017004430.1:c.3067C>T | XP_016859919.1:p.Arg1023Cys | |
| XM_024452974.1:c.4027C>T | XP_024308742.1:p.Arg1343Cys | |
| NM_001369346.1:c.3673C>T | NP_001356275.1:p.Arg1225Cys | |
| NM_001369347.1:c.3067C>T | NP_001356276.1:p.Arg1023Cys | |
| NM_018263.6:c.3847C>T MANE Select | NP_060733.4:p.Arg1283Cys |