Linked Data
dbSNP Id:
rs768762066
ExAC:
1:44466439 G / A
gnomAD v2:
1-44466439-G-A
gnomAD v3:
1-44000767-G-A
gnomAD v4:
1-44000767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44000767G>A , CM000663.2:g.44000767G>A | GRCh38 |
| NC_000001.10:g.44466439G>A , CM000663.1:g.44466439G>A | GRCh37 |
| NC_000001.9:g.44239026G>A | NCBI36 |
| NG_050929.1:g.35726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372310.8:c.1536C>T MANE Select | ENSP00000361384.4:p.Phe512= | |
| ENST00000673836.1:c.1536C>T | ENSP00000501314.1:p.Phe512= | |
| ENST00000357730.6:c.1593C>T | ENSP00000350362.2:p.Phe531= | |
| ENST00000360584.6:c.1755C>T | ENSP00000353791.2:p.Phe585= | |
| ENST00000372306.7:c.1624C>T | ENSP00000361380.3:p.Pro542Ser | |
| ENST00000372307.7:c.1341C>T | ENSP00000361381.3:p.Phe447= | |
| ENST00000372310.7:c.1536C>T | ENSP00000361384.3:p.Phe512= | |
| ENST00000475075.6:c.1203C>T | ENSP00000434460.1:p.Phe401= | |
| NM_001024845.2:c.1536C>T | NP_001020016.1:p.Phe512= | |
| NM_001261380.1:c.1548C>T | NP_001248309.1:p.Phe516= | |
| NM_006934.3:c.1593C>T | NP_008865.2:p.Phe531= | |
| NM_201649.3:c.1755C>T | NP_964012.2:p.Phe585= | |
| NR_048548.1:n.1796C>T | ||
| NR_048549.1:n.1519C>T | ||
| XM_011542017.1:c.1755C>T | XP_011540319.1:p.Phe585= | |
| NM_001328626.1:c.1203C>T | NP_001315555.1:p.Phe401= | |
| NM_001328627.1:c.1473C>T | NP_001315556.1:p.Phe491= | |
| NM_001328628.1:c.1341C>T | NP_001315557.1:p.Phe447= | |
| NM_001328629.1:c.1536C>T | NP_001315558.1:p.Phe512= | |
| NM_001328630.1:c.1203C>T | NP_001315559.1:p.Phe401= | |
| XM_011542017.2:c.1755C>T | XP_011540319.1:p.Phe585= | |
| XM_017002152.2:c.1455C>T | XP_016857641.1:p.Phe485= | |
| XM_017002153.2:c.1422C>T | XP_016857642.1:p.Phe474= | |
| XM_024449295.1:c.1341C>T | XP_024305063.1:p.Phe447= | |
| NM_001024845.3:c.1536C>T MANE Select | NP_001020016.1:p.Phe512= | |
| NM_001261380.2:c.1548C>T | NP_001248309.1:p.Phe516= | |
| NM_001328626.2:c.1203C>T | NP_001315555.1:p.Phe401= | |
| NM_001328630.2:c.1203C>T | NP_001315559.1:p.Phe401= | |
| NM_006934.4:c.1593C>T | NP_008865.2:p.Phe531= | |
| NM_201649.4:c.1755C>T | NP_964012.2:p.Phe585= | |
| NR_048548.2:n.1619C>T |