Linked Data
ClinVar Variation Id:
1440289
ClinVar RCV Id:
RCV001978817
dbSNP Id:
rs1176080464
gnomAD v4:
15-66781137-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781137G>T , CM000677.2:g.66781137G>T | GRCh38 |
| NC_000015.9:g.67073475G>T , CM000677.1:g.67073475G>T | GRCh37 |
| NC_000015.8:g.64860529G>T | NCBI36 |
| NG_012244.1:g.83802G>T | |
| NG_012244.2:g.83802G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1093G>T MANE Select | ENSP00000288840.5:p.Gly365Cys | |
| ENST00000288840.9:c.1093G>T | ENSP00000288840.5:p.Gly365Cys | |
| ENST00000557916.5:c.1225G>T | ENSP00000452955.1:n.1225G>T | |
| ENST00000559931.5:c.397G>T | ENSP00000453446.1:n.397G>T | |
| NM_005585.4:c.1093G>T | NP_005576.3:p.Gly365Cys | |
| NR_027654.1:n.2148G>T | ||
| XM_011521561.1:c.310G>T | XP_011519863.1:p.Gly104Cys | |
| XR_931825.1:n.2492G>T | ||
| XM_011521561.2:c.310G>T | XP_011519863.1:p.Gly104Cys | |
| NM_005585.5:c.1093G>T MANE Select | NP_005576.3:p.Gly365Cys | |
| NR_027654.2:n.2248G>T |