Linked Data
dbSNP Id:
rs1274460287
gnomAD v2:
Y-21869621-G-A
gnomAD v3:
Y-19707735-G-A
gnomAD v4:
Y-19707735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19707735G>A , CM000686.2:g.19707735G>A | GRCh38 |
| NC_000024.9:g.21869621G>A , CM000686.1:g.21869621G>A | GRCh37 |
| NC_000024.8:g.20329009G>A | NCBI36 |
| NG_032920.1:g.42205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.3411C>T MANE Select | ENSP00000322408.4:p.Phe1137= | |
| ENST00000317961.8:c.3411C>T | ENSP00000322408.4:p.Phe1137= | |
| ENST00000382806.6:c.3240C>T | ENSP00000372256.2:p.Phe1080= | |
| ENST00000415360.1:c.327C>T | ENSP00000389433.1:p.Phe109= | |
| ENST00000440077.5:c.3288C>T | ENSP00000398543.1:p.Phe1096= | |
| ENST00000469599.6:n.2009C>T | ||
| ENST00000492117.1:n.3303C>T | ||
| ENST00000541639.5:c.3504C>T | ENSP00000444293.1:p.Phe1168= | |
| NM_001146705.1:c.3504C>T | NP_001140177.1:p.Phe1168= | |
| NM_001146706.1:c.3240C>T | NP_001140178.1:p.Phe1080= | |
| NM_004653.4:c.3411C>T | NP_004644.2:p.Phe1137= | |
| XM_005262560.1:c.3276C>T | XP_005262617.1:p.Phe1092= | |
| XM_005262561.1:c.3180C>T | XP_005262618.1:p.Phe1060= | |
| XM_011531468.1:c.3333C>T | XP_011529770.1:p.Phe1111= | |
| XR_244571.2:n.3699C>T | ||
| XR_430568.2:n.4033C>T | ||
| XM_005262560.3:c.3276C>T | XP_005262617.1:p.Phe1092= | |
| XM_005262561.3:c.3180C>T | XP_005262618.1:p.Phe1060= | |
| XM_011531468.3:c.3333C>T | XP_011529770.1:p.Phe1111= | |
| XM_024452495.1:c.1401C>T | XP_024308263.1:p.Phe467= | |
| XM_024452496.1:c.1167C>T | XP_024308264.1:p.Phe389= | |
| XR_001756009.2:n.4149C>T | ||
| XR_001756010.2:n.4149C>T | ||
| XR_001756011.2:n.4014C>T | ||
| XR_001756012.2:n.4162C>T | ||
| XR_001756013.2:n.3480C>T | ||
| XR_002958832.1:n.3581C>T | ||
| XR_002958834.1:n.3805C>T | ||
| XR_002958835.1:n.3688C>T | ||
| XR_002958836.1:n.4371C>T | ||
| XR_002958837.1:n.4178C>T | ||
| XR_244571.4:n.3698C>T | ||
| XR_430568.4:n.4032C>T | ||
| NM_001146706.2:c.3240C>T | NP_001140178.1:p.Phe1080= | |
| NM_004653.5:c.3411C>T MANE Select | NP_004644.2:p.Phe1137= | |
| NM_001146705.2:c.3504C>T | NP_001140177.1:p.Phe1168= |