Linked Data
dbSNP Id:
rs746666411
ExAC:
19:48922993 C / G
gnomAD v2:
19-48922993-C-G
gnomAD v4:
19-48419736-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419736C>G , CM000681.2:g.48419736C>G | GRCh38 |
| NC_000019.9:g.48922993C>G , CM000681.1:g.48922993C>G | GRCh37 |
| NC_000019.8:g.53614805C>G | NCBI36 |
| NG_052829.1:g.29862C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263269.4:c.2013C>G MANE Select | ENSP00000263269.2:p.Ala671= | |
| ENST00000263269.3:c.2013C>G | ENSP00000263269.2:p.Ala671= | |
| NM_000836.2:c.2013C>G | NP_000827.2:p.Ala671= | |
| XM_011526872.1:c.2013C>G | XP_011525174.1:p.Ala671= | |
| NM_000836.4:c.2013C>G MANE Select | NP_000827.2:p.Ala671= |