Linked Data
dbSNP Id:
rs746375589
ExAC:
5:56171027 A / C
gnomAD v2:
5-56171027-A-C
gnomAD v4:
5-56875200-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875200A>C , CM000667.2:g.56875200A>C | GRCh38 |
| NC_000005.9:g.56171027A>C , CM000667.1:g.56171027A>C | GRCh37 |
| NC_000005.8:g.56206784A>C | NCBI36 |
| NG_031884.1:g.65128A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399503.4:c.1855A>C MANE Select | ENSP00000382423.3:p.Thr619Pro | |
| ENST00000399503.3:c.1855A>C | ENSP00000382423.3:p.Thr619Pro | |
| NM_005921.1:c.1855A>C | NP_005912.1:p.Thr619Pro | |
| XM_005248519.3:c.1477A>C | XP_005248576.2:p.Thr493Pro | |
| XM_011543406.1:c.1600A>C | XP_011541708.1:p.Thr534Pro | |
| XM_011543407.1:c.1686+2195A>C | XP_011541709.1:n.1686+2195A>C | |
| XM_011543408.1:c.1855A>C | XP_011541710.1:p.Thr619Pro | |
| XM_017009484.1:c.1444A>C | XP_016864973.1:p.Thr482Pro | |
| XM_017009485.1:c.1366A>C | XP_016864974.1:p.Thr456Pro | |
| XR_001742068.2:n.1886A>C | ||
| NM_005921.2:c.1855A>C MANE Select | NP_005912.1:p.Thr619Pro |