Linked Data
dbSNP Id:
rs202095603
ExAC:
7:100244600 G / A
gnomAD v2:
7-100244600-G-A
gnomAD v3:
7-100646977-G-A
gnomAD v4:
7-100646977-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646977G>A , CM000669.2:g.100646977G>A | GRCh38 |
| NC_000007.13:g.100244600G>A , CM000669.1:g.100244600G>A | GRCh37 |
| NC_000007.12:g.100082536G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.930C>T MANE Select | ENSP00000160382.5:p.Asn310= | |
| ENST00000160382.9:c.930C>T | ENSP00000160382.5:p.Asn310= | |
| ENST00000487125.1:n.492C>T | ||
| NM_016188.4:c.930C>T | NP_057272.1:p.Asn310= | |
| XR_927476.1:n.1037C>T | ||
| NR_134539.1:n.1037C>T | ||
| NM_016188.5:c.930C>T MANE Select | NP_057272.1:p.Asn310= | |
| NR_134539.2:n.1024C>T |