Linked Data
dbSNP Id:
rs777612235
ExAC:
7:151845958 A / C
gnomAD v2:
7-151845958-A-C
gnomAD v4:
7-152148873-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148873A>C , CM000669.2:g.152148873A>C | GRCh38 |
| NC_000007.13:g.151845958A>C , CM000669.1:g.151845958A>C | GRCh37 |
| NC_000007.12:g.151476891A>C | NCBI36 |
| NG_033948.1:g.292133T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1242T>G | ||
| ENST00000682116.1:n.2186T>G | ||
| ENST00000682283.1:c.13225T>G | ENSP00000507485.1:p.Trp4409Gly | |
| ENST00000682629.1:n.2354T>G | ||
| ENST00000683120.1:n.8246T>G | ||
| ENST00000683178.1:c.3627T>G | ||
| ENST00000683200.1:c.10564T>G | ENSP00000508052.1:p.Trp3522Gly | |
| ENST00000683337.1:n.4684T>G | ||
| ENST00000683502.1:c.3699T>G | ||
| ENST00000683621.1:n.1820T>G | ||
| ENST00000683640.1:n.1770T>G | ||
| ENST00000684069.1:c.1471T>G | ENSP00000507650.1:p.Trp491Gly | |
| ENST00000684261.1:c.7951T>G | ENSP00000508097.1:p.Trp2651Gly | |
| ENST00000684649.1:c.3699T>G | ||
| ENST00000262189.11:c.13054T>G MANE Select | ENSP00000262189.6:p.Trp4352Gly | |
| ENST00000360104.8:c.8841T>G | ||
| ENST00000418061.2:c.3696T>G | ||
| ENST00000424877.6:c.3630T>G | ||
| ENST00000679393.1:n.7765T>G | ||
| ENST00000679560.1:c.7954T>G | ENSP00000505094.1:p.Trp2652Gly | |
| ENST00000679882.1:c.12619T>G | ENSP00000506154.1:p.Trp4207Gly | |
| ENST00000680029.1:c.3631T>G | ||
| ENST00000680877.1:c.7954T>G | ENSP00000505724.1:p.Trp2652Gly | |
| ENST00000681923.1:n.2069T>G | ||
| ENST00000262189.10:c.13054T>G | ENSP00000262189.6:p.Trp4352Gly | |
| ENST00000355193.6:c.13054T>G | ENSP00000347325.3:p.Trp4352Gly | |
| ENST00000360104.7:c.5735T>G | ||
| ENST00000424877.5:c.2905T>G | ENSP00000410411.1:p.Trp969Gly | |
| ENST00000473186.5:n.10936T>G | ||
| ENST00000558084.5:c.*10574T>G | ENSP00000453752.1:n.*10574T>G | |
| NM_170606.2:c.13054T>G | NP_733751.2:p.Trp4352Gly | |
| XM_005250025.3:c.13270T>G | XP_005250082.1:p.Trp4424Gly | |
| XM_005250026.2:c.13267T>G | XP_005250083.1:p.Trp4423Gly | |
| XM_005250027.3:c.13267T>G | XP_005250084.1:p.Trp4423Gly | |
| XM_005250028.3:c.13270T>G | XP_005250085.1:p.Trp4424Gly | |
| XM_005250031.3:c.13105T>G | XP_005250088.1:p.Trp4369Gly | |
| XM_006716077.2:c.13267T>G | XP_006716140.1:p.Trp4423Gly | |
| XM_006716078.2:c.13198T>G | XP_006716141.1:p.Trp4400Gly | |
| XM_006716079.2:c.13102T>G | XP_006716142.1:p.Trp4368Gly | |
| XM_011516450.1:c.13222T>G | XP_011514752.1:p.Trp4408Gly | |
| XM_011516451.1:c.13150T>G | XP_011514753.1:p.Trp4384Gly | |
| XM_011516452.1:c.13117T>G | XP_011514754.1:p.Trp4373Gly | |
| XM_011516453.1:c.13033T>G | XP_011514755.1:p.Trp4345Gly | |
| XM_011516454.1:c.12355T>G | XP_011514756.1:p.Trp4119Gly | |
| XM_011516455.1:c.10816T>G | XP_011514757.1:p.Trp3606Gly | |
| XM_011516456.1:c.13222T>G | XP_011514758.1:p.Trp4408Gly | |
| XM_005250025.4:c.13270T>G | XP_005250082.1:p.Trp4424Gly | |
| XM_005250026.3:c.13267T>G | XP_005250083.1:p.Trp4423Gly | |
| XM_005250027.4:c.13267T>G | XP_005250084.1:p.Trp4423Gly | |
| XM_005250028.4:c.13270T>G | XP_005250085.1:p.Trp4424Gly | |
| XM_005250031.4:c.13105T>G | XP_005250088.1:p.Trp4369Gly | |
| XM_006716077.3:c.13267T>G | XP_006716140.1:p.Trp4423Gly | |
| XM_006716078.3:c.13198T>G | XP_006716141.1:p.Trp4400Gly | |
| XM_006716079.3:c.13102T>G | XP_006716142.1:p.Trp4368Gly | |
| XM_011516450.2:c.13222T>G | XP_011514752.1:p.Trp4408Gly | |
| XM_011516451.2:c.13150T>G | XP_011514753.1:p.Trp4384Gly | |
| XM_011516452.2:c.13117T>G | XP_011514754.1:p.Trp4373Gly | |
| XM_011516453.2:c.13033T>G | XP_011514755.1:p.Trp4345Gly | |
| XM_011516454.2:c.12355T>G | XP_011514756.1:p.Trp4119Gly | |
| XM_011516456.2:c.13222T>G | XP_011514758.1:p.Trp4408Gly | |
| XM_017012480.1:c.13270T>G | XP_016867969.1:p.Trp4424Gly | |
| XM_017012481.1:c.13267T>G | XP_016867970.1:p.Trp4423Gly | |
| XM_017012482.1:c.13267T>G | XP_016867971.1:p.Trp4423Gly | |
| XM_017012483.1:c.13267T>G | XP_016867972.1:p.Trp4423Gly | |
| XM_017012484.1:c.13237T>G | XP_016867973.1:p.Trp4413Gly | |
| XM_017012485.1:c.13219T>G | XP_016867974.1:p.Trp4407Gly | |
| XM_017012486.1:c.13195T>G | XP_016867975.1:p.Trp4399Gly | |
| XM_017012487.1:c.13123T>G | XP_016867976.1:p.Trp4375Gly | |
| XM_017012488.1:c.13087T>G | XP_016867977.1:p.Trp4363Gly | |
| XM_017012489.1:c.9940T>G | XP_016867978.1:p.Trp3314Gly | |
| XM_017012490.2:c.9544T>G | XP_016867979.1:p.Trp3182Gly | |
| XM_024446852.1:c.13267T>G | XP_024302620.1:p.Trp4423Gly | |
| XM_024446853.1:c.13195T>G | XP_024302621.1:p.Trp4399Gly | |
| NM_170606.3:c.13054T>G MANE Select | NP_733751.2:p.Trp4352Gly |