Linked Data
ClinVar Variation Id:
402218
dbSNP Id:
rs1060499778
gnomAD v4:
X-23379781-A-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23379781A>C , CM000685.2:g.23379781A>C | GRCh38 |
| NC_000023.10:g.23397898A>C , CM000685.1:g.23397898A>C | GRCh37 |
| NC_000023.9:g.23307819A>C | NCBI36 |
| NG_021300.1:g.49914A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379361.5:c.542A>C MANE Select | ENSP00000368666.4:p.Lys181Thr | |
| ENST00000379361.4:c.542A>C | ENSP00000368666.4:p.Lys181Thr | |
| ENST00000456522.1:c.159-12750A>C | ||
| ENST00000616022.1:c.227A>C | ENSP00000478663.1:p.Lys76Thr | |
| NM_173495.2:c.542A>C | NP_775766.2:p.Lys181Thr | |
| XM_011545449.1:c.542A>C | XP_011543751.1:p.Lys181Thr | |
| XM_011545449.3:c.542A>C | XP_011543751.1:p.Lys181Thr | |
| NM_173495.3:c.542A>C MANE Select | NP_775766.2:p.Lys181Thr |