Linked Data
dbSNP Id:
rs1382046624
gnomAD v2:
3-39436009-T-G
gnomAD v3:
3-39394518-T-G
gnomAD v4:
3-39394518-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394518T>G , CM000665.2:g.39394518T>G | GRCh38 |
| NC_000003.11:g.39436009T>G , CM000665.1:g.39436009T>G | GRCh37 |
| NC_000003.10:g.39411013T>G | NCBI36 |
| NG_016931.1:g.16195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.686T>G | ENSP00000495376.1:p.Met229Arg | |
| ENST00000643672.1:c.683T>G | ENSP00000494532.1:p.Met228Arg | |
| ENST00000645280.1:c.680T>G | ENSP00000496690.1:p.Met227Arg | |
| ENST00000648579.1:c.*31T>G | ENSP00000497638.1:n.*31T>G | |
| ENST00000650617.1:c.734T>G MANE Select | ENSP00000497532.1:p.Met245Arg | |
| ENST00000273158.8:c.734T>G | ENSP00000273158.3:p.Met245Arg | |
| NM_017875.2:c.734T>G | NP_060345.2:p.Met245Arg | |
| XM_006713214.1:c.722T>G | XP_006713277.1:p.Met241Arg | |
| XM_011533869.1:c.716T>G | XP_011532171.1:p.Met239Arg | |
| XM_011533870.1:c.683T>G | XP_011532172.1:p.Met228Arg | |
| XM_011533871.1:c.554T>G | XP_011532173.1:p.Met185Arg | |
| NM_001354798.1:c.626-1880T>G | NP_001341727.1:n.626-1880T>G | |
| NM_017875.4:c.734T>G MANE Select | NP_060345.2:p.Met245Arg | |
| XM_006713214.2:c.722T>G | XP_006713277.1:p.Met241Arg | |
| XM_011533869.2:c.716T>G | XP_011532171.1:p.Met239Arg | |
| XM_024453611.1:c.680T>G | XP_024309379.1:p.Met227Arg | |
| NM_001354798.2:c.626-1880T>G | NP_001341727.1:n.626-1880T>G |