Linked Data
dbSNP Id:
rs753545734
ExAC:
6:18143931 C / A
gnomAD v2:
6-18143931-C-A
gnomAD v3:
6-18143700-C-A
gnomAD v4:
6-18143700-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18143700C>A , CM000668.2:g.18143700C>A | GRCh38 |
| NC_000006.11:g.18143931C>A , CM000668.1:g.18143931C>A | GRCh37 |
| NC_000006.10:g.18251910C>A | NCBI36 |
| NG_012137.2:g.16444G>T | |
| NG_012137.3:g.16444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.262G>T MANE Select | ENSP00000312304.4:p.Gly88Cys | |
| ENST00000309983.4:c.262G>T | ENSP00000312304.4:p.Gly88Cys | |
| NM_000367.3:c.262G>T | NP_000358.1:p.Gly88Cys | |
| XM_011514839.1:c.262G>T | XP_011513141.1:p.Gly88Cys | |
| XM_011514840.1:c.193G>T | XP_011513142.1:p.Gly65Cys | |
| NM_000367.4:c.262G>T | NP_000358.1:p.Gly88Cys | |
| NM_001346817.1:c.262G>T | NP_001333746.1:p.Gly88Cys | |
| NM_001346818.1:c.262G>T | NP_001333747.1:p.Gly88Cys | |
| NM_000367.5:c.262G>T MANE Select | NP_000358.1:p.Gly88Cys |