Linked Data
dbSNP Id:
rs775794272
ExAC:
2:31756493 A / G
gnomAD v2:
2-31756493-A-G
gnomAD v3:
2-31531423-A-G
gnomAD v4:
2-31531423-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531423A>G , CM000664.2:g.31531423A>G | GRCh38 |
| NC_000002.11:g.31756493A>G , CM000664.1:g.31756493A>G | GRCh37 |
| NC_000002.10:g.31609997A>G | NCBI36 |
| NG_008365.1:g.54549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.495T>C MANE Select | ENSP00000477587.1:p.Tyr165= | |
| ENST00000622030.1:c.495T>C | ENSP00000477587.1:p.Tyr165= | |
| NM_000348.3:c.495T>C | NP_000339.2:p.Tyr165= | |
| XM_011533069.1:c.273T>C | XP_011531371.1:p.Tyr91= | |
| XM_011533070.1:c.240T>C | XP_011531372.1:p.Tyr80= | |
| XM_011533071.1:c.240T>C | XP_011531373.1:p.Tyr80= | |
| XM_011533072.1:c.240T>C | XP_011531374.1:p.Tyr80= | |
| XM_011533069.2:c.273T>C | XP_011531371.1:p.Tyr91= | |
| XM_011533072.2:c.240T>C | XP_011531374.1:p.Tyr80= | |
| NM_000348.4:c.495T>C MANE Select | NP_000339.2:p.Tyr165= |