Linked Data
dbSNP Id:
rs571479408
ExAC:
19:10600388 A / G
gnomAD v2:
19-10600388-A-G
gnomAD v3:
19-10489712-A-G
gnomAD v4:
19-10489712-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10489712A>G , CM000681.2:g.10489712A>G | GRCh38 |
| NC_000019.9:g.10600388A>G , CM000681.1:g.10600388A>G | GRCh37 |
| NC_000019.8:g.10461388A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1467T>C MANE Select | ENSP00000171111.4:p.Cys489= | |
| ENST00000171111.9:c.1467T>C | ENSP00000171111.4:p.Cys489= | |
| ENST00000393623.6:c.1467T>C | ENSP00000377245.1:p.Cys489= | |
| ENST00000590593.1:c.305-344T>C | ||
| ENST00000592478.5:c.286T>C | ||
| NM_012289.3:c.1467T>C | NP_036421.2:p.Cys489= | |
| NM_203500.1:c.1467T>C | NP_987096.1:p.Cys489= | |
| XM_005260173.1:c.1467T>C | XP_005260230.1:p.Cys489= | |
| XM_005260174.1:c.1467T>C | XP_005260231.1:p.Cys489= | |
| XM_011528452.1:c.1467T>C | XP_011526754.1:p.Cys489= | |
| NM_203500.2:c.1467T>C MANE Select | NP_987096.1:p.Cys489= | |
| NM_012289.4:c.1467T>C | NP_036421.2:p.Cys489= |