Linked Data
dbSNP Id:
rs749956661
ExAC:
1:173878916 A / G
gnomAD v2:
1-173878916-A-G
gnomAD v4:
1-173909778-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909778A>G , CM000663.2:g.173909778A>G | GRCh38 |
| NC_000001.10:g.173878916A>G , CM000663.1:g.173878916A>G | GRCh37 |
| NC_000001.9:g.172145539A>G | NCBI36 |
| NG_012462.1:g.12601T>C , LRG_577:g.12601T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.927T>C MANE Select | ENSP00000356671.3:p.Asp309= | |
| ENST00000367698.3:c.927T>C | ENSP00000356671.3:p.Asp309= | |
| ENST00000487183.1:n.578T>C | ||
| ENST00000617423.4:c.559+2086T>C | ENSP00000478688.1:n.559+2086T>C | |
| NM_000488.3:c.927T>C , LRG_577t1:c.927T>C | NP_000479.1:p.Asp309= | |
| XM_005245198.2:c.783T>C | XP_005245255.1:p.Asp261= | |
| NM_001365052.1:c.783T>C | NP_001351981.1:p.Asp261= | |
| NM_000488.4:c.927T>C MANE Select | NP_000479.1:p.Asp309= | |
| NM_001365052.2:c.783T>C | NP_001351981.1:p.Asp261= | |
| NM_001386302.1:c.1050T>C | NP_001373231.1:p.Asp350= | |
| NM_001386303.1:c.1008T>C | NP_001373232.1:p.Asp336= | |
| NM_001386304.1:c.906T>C | NP_001373233.1:p.Asp302= | |
| NM_001386305.1:c.870T>C | NP_001373234.1:p.Asp290= | |
| NM_001386306.1:c.711T>C | NP_001373235.1:p.Asp237= |