Linked Data
dbSNP Id:
rs779713503
ExAC:
X:8699914 C / T
gnomAD v2:
X-8699914-C-T
gnomAD v3:
X-8731873-C-T
gnomAD v4:
X-8731873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731873C>T , CM000685.2:g.8731873C>T | GRCh38 |
| NC_000023.10:g.8699914C>T , CM000685.1:g.8699914C>T | GRCh37 |
| NC_000023.9:g.8659914C>T | NCBI36 |
| NG_007088.1:g.5314G>A | |
| NG_007088.2:g.5314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.164G>A MANE Select | ENSP00000262648.3:p.Ser55Asn | |
| ENST00000262648.7:c.164G>A | ENSP00000262648.3:p.Ser55Asn | |
| ENST00000619786.1:c.161G>A | ENSP00000478734.1:p.Ser54Asn | |
| NM_000216.2:c.164G>A | NP_000207.2:p.Ser55Asn | |
| XM_005274501.3:c.164G>A | XP_005274558.1:p.Ser55Asn | |
| NM_000216.3:c.164G>A | NP_000207.2:p.Ser55Asn | |
| XM_005274501.4:c.164G>A | XP_005274558.1:p.Ser55Asn | |
| NM_000216.4:c.164G>A MANE Select | NP_000207.2:p.Ser55Asn |