Linked Data
dbSNP Id:
rs1228720662
gnomAD v2:
2-175614732-A-G
gnomAD v3:
2-174750004-A-G
gnomAD v4:
2-174750004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750004A>G , CM000664.2:g.174750004A>G | GRCh38 |
| NC_000002.11:g.175614732A>G , CM000664.1:g.175614732A>G | GRCh37 |
| NC_000002.10:g.175322978A>G | NCBI36 |
| NG_008172.1:g.19469T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.455T>C | ENSP00000490338.2:p.Val152Ala | |
| ENST00000672640.1:c.455T>C | ENSP00000500507.1:p.Val152Ala | |
| ENST00000261007.9:c.1019T>C | ENSP00000261007.5:p.Val340Ala | |
| ENST00000348749.9:c.944T>C MANE Select | ENSP00000261008.5:p.Val315Ala | |
| ENST00000409219.5:c.944T>C | ENSP00000386611.1:p.Val315Ala | |
| ENST00000409542.5:c.698T>C | ENSP00000387026.1:p.Val233Ala | |
| ENST00000435083.5:c.*588T>C | ENSP00000395805.1:n.*588T>C | |
| NM_000079.3:c.944T>C | NP_000070.1:p.Val315Ala | |
| NM_001039523.2:c.1019T>C | NP_001034612.1:p.Val340Ala | |
| XM_017003256.1:c.1040T>C | XP_016858745.1:p.Val347Ala | |
| XM_017003257.1:c.965T>C | XP_016858746.1:p.Val322Ala | |
| NM_000079.4:c.944T>C MANE Select | NP_000070.1:p.Val315Ala | |
| NM_001039523.3:c.1019T>C | NP_001034612.1:p.Val340Ala |