Linked Data
ClinVar Variation Id:
191235
dbSNP Id:
rs752274637
ExAC:
9:35737402 G / A
gnomAD v2:
9-35737402-G-A
gnomAD v4:
9-35737405-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35737405G>A , CM000671.2:g.35737405G>A | GRCh38 |
| NC_000009.11:g.35737402G>A , CM000671.1:g.35737402G>A | GRCh37 |
| NC_000009.10:g.35727402G>A | NCBI36 |
| NG_033899.1:g.16824C>T | |
| NG_046983.1:g.10086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378088.1:c.*232C>T | ENSP00000367328.1:n.*232C>T | |
| ENST00000378094.4:c.*71C>T | ENSP00000367334.4:n.*71C>T | |
| ENST00000378103.7:c.2548C>T MANE Select | ENSP00000367343.3:p.Arg850Cys | |
| NM_020944.2:c.2548C>T | NP_065995.1:p.Arg850Cys | |
| XM_005251526.3:c.2500C>T | XP_005251583.1:p.Arg834Cys | |
| XM_006716809.2:c.2566C>T | XP_006716872.1:p.Arg856Cys | |
| XM_011517969.1:c.2584C>T | XP_011516271.1:p.Arg862Cys | |
| XM_011517970.1:c.2566C>T | XP_011516272.1:p.Arg856Cys | |
| XM_011517971.1:c.2518C>T | XP_011516273.1:p.Arg840Cys | |
| XM_011517972.1:c.*71C>T | XP_011516274.1:n.*71C>T | |
| XM_011517973.1:c.*71C>T | XP_011516275.1:n.*71C>T | |
| XM_011517974.1:c.2347C>T | XP_011516276.1:p.Arg783Cys | |
| XM_011517975.1:c.2131C>T | XP_011516277.1:p.Arg711Cys | |
| XM_011517976.1:c.2113C>T | XP_011516278.1:p.Arg705Cys | |
| XM_011517977.1:c.2029C>T | XP_011516279.1:p.Arg677Cys | |
| XM_011517978.1:c.2011C>T | XP_011516280.1:p.Arg671Cys | |
| XM_011517979.1:c.2011C>T | XP_011516281.1:p.Arg671Cys | |
| NM_001330660.1:c.*71C>T | NP_001317589.1:n.*71C>T | |
| XM_005251526.5:c.2500C>T | XP_005251583.1:p.Arg834Cys | |
| XM_006716809.4:c.2566C>T | XP_006716872.1:p.Arg856Cys | |
| XM_017014937.2:c.2482C>T | XP_016870426.1:p.Arg828Cys | |
| XM_017014938.2:c.*71C>T | XP_016870427.1:n.*71C>T | |
| XM_017014939.2:c.*71C>T | XP_016870428.1:n.*71C>T | |
| XM_017014940.2:c.2329C>T | XP_016870429.1:p.Arg777Cys | |
| XM_017014941.2:c.*71C>T | XP_016870430.1:n.*71C>T | |
| XM_017014942.2:c.2113C>T | XP_016870431.1:p.Arg705Cys | |
| XM_017014943.2:c.2095C>T | XP_016870432.1:p.Arg699Cys | |
| XM_017014944.1:c.2011C>T | XP_016870433.1:p.Arg671Cys | |
| XM_017014945.1:c.1993C>T | XP_016870434.1:p.Arg665Cys | |
| XM_017014946.2:c.1687C>T | XP_016870435.1:p.Arg563Cys | |
| NM_020944.3:c.2548C>T MANE Select | NP_065995.1:p.Arg850Cys | |
| NM_001330660.2:c.*71C>T | NP_001317589.1:n.*71C>T |