Linked Data
dbSNP Id:
rs748760719
ExAC:
1:207785080 C / A
gnomAD v2:
1-207785080-C-A
gnomAD v4:
1-207611735-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207611735C>A , CM000663.2:g.207611735C>A | GRCh38 |
| NC_000001.10:g.207785080C>A , CM000663.1:g.207785080C>A | GRCh37 |
| NC_000001.9:g.205851703C>A | NCBI36 |
| NG_007481.1:g.120608C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.6354C>A MANE Select | ENSP00000356016.4:p.Asn2118Lys | |
| ENST00000367051.6:c.5004C>A | ENSP00000356018.1:p.Asn1668Lys | |
| ENST00000367052.6:c.5004C>A | ENSP00000356019.1:p.Asn1668Lys | |
| ENST00000367053.6:c.5004C>A | ENSP00000356020.1:p.Asn1668Lys | |
| ENST00000400960.7:c.5004C>A | ENSP00000383744.2:p.Asn1668Lys | |
| ENST00000367049.8:c.6354C>A | ENSP00000356016.4:p.Asn2118Lys | |
| ENST00000367051.5:c.5004C>A | ENSP00000356018.1:p.Asn1668Lys | |
| ENST00000367052.5:c.5004C>A | ENSP00000356019.1:p.Asn1668Lys | |
| ENST00000367053.5:c.5004C>A | ENSP00000356020.1:p.Asn1668Lys | |
| ENST00000400960.6:c.5004C>A | ENSP00000383744.2:p.Asn1668Lys | |
| ENST00000529814.1:c.1180-4840C>A | ||
| NM_000573.3:c.5004C>A | NP_000564.2:p.Asn1668Lys | |
| NM_000651.4:c.6354C>A | NP_000642.3:p.Asn2118Lys | |
| XM_006711166.2:c.6369C>A | XP_006711229.1:p.Asn2123Lys | |
| XM_011509205.1:c.6369C>A | XP_011507507.1:p.Asn2123Lys | |
| NM_000651.5:c.6354C>A | NP_000642.3:p.Asn2118Lys | |
| XM_024453287.1:c.5019C>A | XP_024309055.1:p.Asn1673Lys | |
| NM_000573.4:c.5004C>A | NP_000564.2:p.Asn1668Lys | |
| NM_000651.6:c.6354C>A MANE Select | NP_000642.3:p.Asn2118Lys |