Linked Data
ClinVar Variation Id:
315994
dbSNP Id:
rs758352842
ExAC:
15:43069278 G / A
gnomAD v2:
15-43069278-G-A
gnomAD v3:
15-42777080-G-A
gnomAD v4:
15-42777080-G-A
COSMIC:
COSM1664739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42777080G>A , CM000677.2:g.42777080G>A | GRCh38 |
| NC_000015.9:g.43069278G>A , CM000677.1:g.43069278G>A | GRCh37 |
| NC_000015.8:g.40856570G>A | NCBI36 |
| NG_012664.1:g.148730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267890.11:c.1360C>T MANE Select | ENSP00000267890.6:p.Arg454Cys | |
| ENST00000267890.10:c.1360C>T | ENSP00000267890.6:p.Arg454Cys | |
| ENST00000567274.5:c.1255C>T | ENSP00000457489.1:p.Arg419Cys | |
| ENST00000567840.5:c.1360C>T | ENSP00000455734.1:p.Arg454Cys | |
| ENST00000622375.4:c.2575C>T | ENSP00000479984.1:p.Arg859Cys | |
| NM_173500.3:c.1360C>T | NP_775771.3:p.Arg454Cys | |
| XM_005254171.3:c.1378C>T | XP_005254228.1:p.Arg460Cys | |
| XM_005254173.3:c.1153C>T | XP_005254230.1:p.Arg385Cys | |
| XM_006720402.2:c.1345C>T | XP_006720465.1:p.Arg449Cys | |
| XM_006720403.2:c.1153C>T | XP_006720466.1:p.Arg385Cys | |
| XM_011521267.1:c.1153C>T | XP_011519569.1:p.Arg385Cys | |
| XM_011521268.1:c.1093C>T | XP_011519570.1:p.Arg365Cys | |
| XM_011521269.1:c.1081C>T | XP_011519571.1:p.Arg361Cys | |
| XM_005254171.5:c.1378C>T | XP_005254228.1:p.Arg460Cys | |
| XM_005254173.5:c.1153C>T | XP_005254230.1:p.Arg385Cys | |
| XM_006720402.4:c.1345C>T | XP_006720465.1:p.Arg449Cys | |
| XM_006720403.4:c.1153C>T | XP_006720466.1:p.Arg385Cys | |
| XM_017021950.2:c.1081C>T | XP_016877439.1:p.Arg361Cys | |
| XM_024449849.1:c.1360C>T | XP_024305617.1:p.Arg454Cys | |
| XM_024449850.1:c.1360C>T | XP_024305618.1:p.Arg454Cys | |
| XM_024449851.1:c.1153C>T | XP_024305619.1:p.Arg385Cys | |
| NM_173500.4:c.1360C>T MANE Select | NP_775771.3:p.Arg454Cys |