Linked Data
dbSNP Id:
rs772087635
ExAC:
4:100870871 G / A
gnomAD v2:
4-100870871-G-A
gnomAD v4:
4-99949714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949714G>A , CM000666.2:g.99949714G>A | GRCh38 |
| NC_000004.11:g.100870871G>A , CM000666.1:g.100870871G>A | GRCh37 |
| NC_000004.10:g.101089894G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.30C>T MANE Select | ENSP00000296417.5:p.Ser10= | |
| ENST00000651623.1:c.30C>T | ENSP00000498935.1:p.Ser10= | |
| ENST00000296417.5:c.30C>T | ENSP00000296417.5:p.Ser10= | |
| ENST00000511203.1:n.586C>T | ||
| ENST00000511319.5:n.555C>T | ||
| ENST00000511348.1:n.215C>T | ||
| ENST00000527366.1:n.114C>T | ||
| ENST00000529158.5:n.79C>T | ||
| NM_002106.3:c.30C>T | NP_002097.1:p.Ser10= | |
| NM_002106.4:c.30C>T MANE Select | NP_002097.1:p.Ser10= |