Linked Data
dbSNP Id:
rs748414707
ExAC:
3:183777655 G / C
gnomAD v2:
3-183777655-G-C
gnomAD v3:
3-184059867-G-C
gnomAD v4:
3-184059867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184059867G>C , CM000665.2:g.184059867G>C | GRCh38 |
| NC_000003.11:g.183777655G>C , CM000665.1:g.183777655G>C | GRCh37 |
| NC_000003.10:g.185260349G>C | NCBI36 |
| NG_012749.1:g.11821G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.965G>C MANE Select | ENSP00000322617.1:p.Ser322Thr | |
| ENST00000318351.1:c.965G>C | ENSP00000322617.1:p.Ser322Thr | |
| NM_130770.2:c.965G>C | NP_570126.2:p.Ser322Thr | |
| NM_130770.3:c.965G>C MANE Select | NP_570126.2:p.Ser322Thr |