Linked Data
ClinVar Variation Id:
41486
dbSNP Id:
rs398123013
gnomAD v2:
9-35741755-G-A
gnomAD v3:
9-35741758-G-A
gnomAD v4:
9-35741758-G-A
PubMed:
PMID:23332916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35741758G>A , CM000671.2:g.35741758G>A | GRCh38 |
| NC_000009.11:g.35741755G>A , CM000671.1:g.35741755G>A | GRCh37 |
| NC_000009.10:g.35731755G>A | NCBI36 |
| NG_033899.1:g.12471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378094.4:c.700C>T | ENSP00000367334.4:p.Arg234Ter | |
| ENST00000378103.7:c.700C>T MANE Select | ENSP00000367343.3:p.Arg234Ter | |
| ENST00000467252.5:n.272C>T | ||
| ENST00000485259.1:n.279C>T | ||
| NM_020944.2:c.700C>T | NP_065995.1:p.Arg234Ter | |
| XM_005251526.3:c.718C>T | XP_005251583.1:p.Arg240Ter | |
| XM_006716809.2:c.718C>T | XP_006716872.1:p.Arg240Ter | |
| XM_011517969.1:c.718C>T | XP_011516271.1:p.Arg240Ter | |
| XM_011517970.1:c.700C>T | XP_011516272.1:p.Arg234Ter | |
| XM_011517971.1:c.718C>T | XP_011516273.1:p.Arg240Ter | |
| XM_011517972.1:c.718C>T | XP_011516274.1:p.Arg240Ter | |
| XM_011517973.1:c.700C>T | XP_011516275.1:p.Arg234Ter | |
| XM_011517974.1:c.568-694C>T | XP_011516276.1:n.568-694C>T | |
| XM_011517975.1:c.270C>T | XP_011516277.1:p.Pro90= | |
| XM_011517976.1:c.252C>T | XP_011516278.1:p.Pro84= | |
| XM_011517977.1:c.168C>T | XP_011516279.1:p.Pro56= | |
| XM_011517978.1:c.150C>T | XP_011516280.1:p.Pro50= | |
| XM_011517979.1:c.150C>T | XP_011516281.1:p.Pro50= | |
| NM_001330660.1:c.700C>T | NP_001317589.1:p.Arg234Ter | |
| XM_005251526.5:c.718C>T | XP_005251583.1:p.Arg240Ter | |
| XM_006716809.4:c.718C>T | XP_006716872.1:p.Arg240Ter | |
| XM_017014937.2:c.700C>T | XP_016870426.1:p.Arg234Ter | |
| XM_017014938.2:c.718C>T | XP_016870427.1:p.Arg240Ter | |
| XM_017014939.2:c.700C>T | XP_016870428.1:p.Arg234Ter | |
| XM_017014940.2:c.568-694C>T | XP_016870429.1:n.568-694C>T | |
| XM_017014941.2:c.568-694C>T | XP_016870430.1:n.568-694C>T | |
| XM_017014942.2:c.270C>T | XP_016870431.1:p.Pro90= | |
| XM_017014943.2:c.252C>T | XP_016870432.1:p.Pro84= | |
| XM_017014944.1:c.168C>T | XP_016870433.1:p.Pro56= | |
| XM_017014945.1:c.150C>T | XP_016870434.1:p.Pro50= | |
| XM_017014946.2:c.-162C>T | XP_016870435.1:n.-162C>T | |
| NM_020944.3:c.700C>T MANE Select | NP_065995.1:p.Arg234Ter | |
| NM_001330660.2:c.700C>T | NP_001317589.1:p.Arg234Ter |