Linked Data
dbSNP Id:
rs767537103
ExAC:
9:139569203 C / A
gnomAD v2:
9-139569203-C-A
gnomAD v4:
9-136674751-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674751C>A , CM000671.2:g.136674751C>A | GRCh38 |
| NC_000009.11:g.139569203C>A , CM000671.1:g.139569203C>A | GRCh37 |
| NC_000009.10:g.138689024C>A | NCBI36 |
| NG_008090.1:g.17709G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.645G>T MANE Select | ENSP00000360761.2:p.Lys215Asn | |
| ENST00000371694.7:c.549G>T | ENSP00000360759.3:p.Lys183Asn | |
| ENST00000371696.6:c.645G>T | ENSP00000360761.2:p.Lys215Asn | |
| ENST00000472820.1:n.573G>T | ||
| ENST00000538402.1:c.645G>T | ENSP00000438919.1:p.Lys215Asn | |
| NM_001012727.1:c.549G>T | NP_001012745.1:p.Lys183Asn | |
| NM_006412.3:c.645G>T | NP_006403.2:p.Lys215Asn | |
| NM_006412.4:c.645G>T MANE Select | NP_006403.2:p.Lys215Asn | |
| NM_001012727.2:c.549G>T | NP_001012745.1:p.Lys183Asn |