Linked Data
dbSNP Id:
rs752092065
ExAC:
3:183777969 G / T
gnomAD v2:
3-183777969-G-T
gnomAD v3:
3-184060181-G-T
gnomAD v4:
3-184060181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060181G>T , CM000665.2:g.184060181G>T | GRCh38 |
| NC_000003.11:g.183777969G>T , CM000665.1:g.183777969G>T | GRCh37 |
| NC_000003.10:g.185260663G>T | NCBI36 |
| NG_012749.1:g.12135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1173G>T MANE Select | ENSP00000322617.1:p.Lys391Asn | |
| ENST00000318351.1:c.1173G>T | ENSP00000322617.1:p.Lys391Asn | |
| NM_130770.2:c.1173G>T | NP_570126.2:p.Lys391Asn | |
| NM_130770.3:c.1173G>T MANE Select | NP_570126.2:p.Lys391Asn |