Linked Data
dbSNP Id:
rs776018244
ExAC:
19:41351246 G / A
gnomAD v2:
19-41351246-G-A
gnomAD v3:
19-40845341-G-A
gnomAD v4:
19-40845341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845341G>A , CM000681.2:g.40845341G>A | GRCh38 |
| NC_000019.9:g.41351246G>A , CM000681.1:g.41351246G>A | GRCh37 |
| NC_000019.8:g.46043086G>A | NCBI36 |
| NG_008377.1:g.10107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1114C>T MANE Select | ENSP00000301141.4:p.Arg372Cys | |
| ENST00000301141.9:c.1114C>T | ENSP00000301141.4:p.Arg372Cys | |
| ENST00000596719.5:n.965C>T | ||
| ENST00000601627.1:c.119+43926G>A | ||
| ENST00000610301.1:c.1114C>T | ENSP00000477899.1:p.Arg372Cys | |
| NM_000762.5:c.1114C>T | NP_000753.3:p.Arg372Cys | |
| NM_000762.6:c.1114C>T MANE Select | NP_000753.3:p.Arg372Cys |