Linked Data
dbSNP Id:
rs558611871
ExAC:
7:151845957 C / A
gnomAD v2:
7-151845957-C-A
gnomAD v3:
7-152148872-C-A
gnomAD v4:
7-152148872-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148872C>A , CM000669.2:g.152148872C>A | GRCh38 |
| NC_000007.13:g.151845957C>A , CM000669.1:g.151845957C>A | GRCh37 |
| NC_000007.12:g.151476890C>A | NCBI36 |
| NG_033948.1:g.292134G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1243G>T | ||
| ENST00000682116.1:n.2187G>T | ||
| ENST00000682283.1:c.13226G>T | ENSP00000507485.1:p.Trp4409Leu | |
| ENST00000682629.1:n.2355G>T | ||
| ENST00000683120.1:n.8247G>T | ||
| ENST00000683178.1:c.3628G>T | ||
| ENST00000683200.1:c.10565G>T | ENSP00000508052.1:p.Trp3522Leu | |
| ENST00000683337.1:n.4685G>T | ||
| ENST00000683502.1:c.3700G>T | ||
| ENST00000683621.1:n.1821G>T | ||
| ENST00000683640.1:n.1771G>T | ||
| ENST00000684069.1:c.1472G>T | ENSP00000507650.1:p.Trp491Leu | |
| ENST00000684261.1:c.7952G>T | ENSP00000508097.1:p.Trp2651Leu | |
| ENST00000684649.1:c.3700G>T | ||
| ENST00000262189.11:c.13055G>T MANE Select | ENSP00000262189.6:p.Trp4352Leu | |
| ENST00000360104.8:c.8842G>T | ||
| ENST00000418061.2:c.3697G>T | ||
| ENST00000424877.6:c.3631G>T | ||
| ENST00000679393.1:n.7766G>T | ||
| ENST00000679560.1:c.7955G>T | ENSP00000505094.1:p.Trp2652Leu | |
| ENST00000679882.1:c.12620G>T | ENSP00000506154.1:p.Trp4207Leu | |
| ENST00000680029.1:c.3632G>T | ||
| ENST00000680877.1:c.7955G>T | ENSP00000505724.1:p.Trp2652Leu | |
| ENST00000681923.1:n.2070G>T | ||
| ENST00000262189.10:c.13055G>T | ENSP00000262189.6:p.Trp4352Leu | |
| ENST00000355193.6:c.13055G>T | ENSP00000347325.3:p.Trp4352Leu | |
| ENST00000360104.7:c.5736G>T | ||
| ENST00000424877.5:c.2906G>T | ENSP00000410411.1:p.Trp969Leu | |
| ENST00000473186.5:n.10937G>T | ||
| ENST00000558084.5:c.*10575G>T | ENSP00000453752.1:n.*10575G>T | |
| NM_170606.2:c.13055G>T | NP_733751.2:p.Trp4352Leu | |
| XM_005250025.3:c.13271G>T | XP_005250082.1:p.Trp4424Leu | |
| XM_005250026.2:c.13268G>T | XP_005250083.1:p.Trp4423Leu | |
| XM_005250027.3:c.13268G>T | XP_005250084.1:p.Trp4423Leu | |
| XM_005250028.3:c.13271G>T | XP_005250085.1:p.Trp4424Leu | |
| XM_005250031.3:c.13106G>T | XP_005250088.1:p.Trp4369Leu | |
| XM_006716077.2:c.13268G>T | XP_006716140.1:p.Trp4423Leu | |
| XM_006716078.2:c.13199G>T | XP_006716141.1:p.Trp4400Leu | |
| XM_006716079.2:c.13103G>T | XP_006716142.1:p.Trp4368Leu | |
| XM_011516450.1:c.13223G>T | XP_011514752.1:p.Trp4408Leu | |
| XM_011516451.1:c.13151G>T | XP_011514753.1:p.Trp4384Leu | |
| XM_011516452.1:c.13118G>T | XP_011514754.1:p.Trp4373Leu | |
| XM_011516453.1:c.13034G>T | XP_011514755.1:p.Trp4345Leu | |
| XM_011516454.1:c.12356G>T | XP_011514756.1:p.Trp4119Leu | |
| XM_011516455.1:c.10817G>T | XP_011514757.1:p.Trp3606Leu | |
| XM_011516456.1:c.13223G>T | XP_011514758.1:p.Trp4408Leu | |
| XM_005250025.4:c.13271G>T | XP_005250082.1:p.Trp4424Leu | |
| XM_005250026.3:c.13268G>T | XP_005250083.1:p.Trp4423Leu | |
| XM_005250027.4:c.13268G>T | XP_005250084.1:p.Trp4423Leu | |
| XM_005250028.4:c.13271G>T | XP_005250085.1:p.Trp4424Leu | |
| XM_005250031.4:c.13106G>T | XP_005250088.1:p.Trp4369Leu | |
| XM_006716077.3:c.13268G>T | XP_006716140.1:p.Trp4423Leu | |
| XM_006716078.3:c.13199G>T | XP_006716141.1:p.Trp4400Leu | |
| XM_006716079.3:c.13103G>T | XP_006716142.1:p.Trp4368Leu | |
| XM_011516450.2:c.13223G>T | XP_011514752.1:p.Trp4408Leu | |
| XM_011516451.2:c.13151G>T | XP_011514753.1:p.Trp4384Leu | |
| XM_011516452.2:c.13118G>T | XP_011514754.1:p.Trp4373Leu | |
| XM_011516453.2:c.13034G>T | XP_011514755.1:p.Trp4345Leu | |
| XM_011516454.2:c.12356G>T | XP_011514756.1:p.Trp4119Leu | |
| XM_011516456.2:c.13223G>T | XP_011514758.1:p.Trp4408Leu | |
| XM_017012480.1:c.13271G>T | XP_016867969.1:p.Trp4424Leu | |
| XM_017012481.1:c.13268G>T | XP_016867970.1:p.Trp4423Leu | |
| XM_017012482.1:c.13268G>T | XP_016867971.1:p.Trp4423Leu | |
| XM_017012483.1:c.13268G>T | XP_016867972.1:p.Trp4423Leu | |
| XM_017012484.1:c.13238G>T | XP_016867973.1:p.Trp4413Leu | |
| XM_017012485.1:c.13220G>T | XP_016867974.1:p.Trp4407Leu | |
| XM_017012486.1:c.13196G>T | XP_016867975.1:p.Trp4399Leu | |
| XM_017012487.1:c.13124G>T | XP_016867976.1:p.Trp4375Leu | |
| XM_017012488.1:c.13088G>T | XP_016867977.1:p.Trp4363Leu | |
| XM_017012489.1:c.9941G>T | XP_016867978.1:p.Trp3314Leu | |
| XM_017012490.2:c.9545G>T | XP_016867979.1:p.Trp3182Leu | |
| XM_024446852.1:c.13268G>T | XP_024302620.1:p.Trp4423Leu | |
| XM_024446853.1:c.13196G>T | XP_024302621.1:p.Trp4399Leu | |
| NM_170606.3:c.13055G>T MANE Select | NP_733751.2:p.Trp4352Leu |