Linked Data
dbSNP Id:
rs752954710
ExAC:
7:100244446 C / T
gnomAD v2:
7-100244446-C-T
gnomAD v3:
7-100646823-C-T
gnomAD v4:
7-100646823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646823C>T , CM000669.2:g.100646823C>T | GRCh38 |
| NC_000007.13:g.100244446C>T , CM000669.1:g.100244446C>T | GRCh37 |
| NC_000007.12:g.100082382C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.945G>A MANE Select | ENSP00000160382.5:p.Ser315= | |
| ENST00000160382.9:c.945G>A | ENSP00000160382.5:p.Ser315= | |
| ENST00000487125.1:n.507G>A | ||
| NM_016188.4:c.945G>A | NP_057272.1:p.Ser315= | |
| XR_927476.1:n.1052G>A | ||
| NR_134539.1:n.1052G>A | ||
| NM_016188.5:c.945G>A MANE Select | NP_057272.1:p.Ser315= | |
| NR_134539.2:n.1039G>A |