Linked Data
ClinVar Variation Id:
372709
ClinVar RCV Id:
RCV000414097
dbSNP Id:
rs1057517938
gnomAD v2:
8-144996458-G-A
gnomAD v4:
8-143922290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143922290G>A , CM000670.2:g.143922290G>A | GRCh38 |
| NC_000008.10:g.144996458G>A , CM000670.1:g.144996458G>A | GRCh37 |
| NC_000008.9:g.145068446G>A | NCBI36 |
| NG_012492.1:g.59456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528025.6:c.7663C>T | ENSP00000437303.2:p.Gln2555Ter | |
| ENST00000685198.1:c.7582C>T | ENSP00000510528.1:p.Gln2528Ter | |
| ENST00000687971.1:c.7249C>T | ENSP00000510788.1:p.Gln2417Ter | |
| ENST00000693060.1:c.7462C>T | ENSP00000510329.1:p.Gln2488Ter | |
| ENST00000345136.8:c.7531C>T MANE Select | ENSP00000344848.3:p.Gln2511Ter | |
| ENST00000527303.2:c.4231C>T | ENSP00000433982.2:p.Gln1411Ter | |
| ENST00000322810.8:c.7942C>T | ENSP00000323856.4:p.Gln2648Ter | |
| ENST00000345136.7:c.7531C>T | ENSP00000344848.3:p.Gln2511Ter | |
| ENST00000354589.7:c.7531C>T | ENSP00000346602.3:p.Gln2511Ter | |
| ENST00000354958.6:c.7465C>T | ENSP00000347044.2:p.Gln2489Ter | |
| ENST00000356346.7:c.7489C>T MANE Plus Clinical | ENSP00000348702.3:p.Gln2497Ter | |
| ENST00000357649.6:c.7543C>T | ENSP00000350277.2:p.Gln2515Ter | |
| ENST00000398774.6:c.7435C>T | ENSP00000381756.2:p.Gln2479Ter | |
| ENST00000436759.6:c.7612C>T | ENSP00000388180.2:p.Gln2538Ter | |
| ENST00000527096.5:c.7600C>T | ENSP00000434583.1:p.Gln2534Ter | |
| ENST00000527303.1:c.240C>T | ||
| NM_000445.4:c.7612C>T | NP_000436.2:p.Gln2538Ter | |
| NM_201378.3:c.7489C>T | NP_958780.1:p.Gln2497Ter | |
| NM_201379.2:c.7465C>T | NP_958781.1:p.Gln2489Ter | |
| NM_201380.3:c.7942C>T | NP_958782.1:p.Gln2648Ter | |
| NM_201381.2:c.7435C>T | NP_958783.1:p.Gln2479Ter | |
| NM_201382.3:c.7531C>T | NP_958784.1:p.Gln2511Ter | |
| NM_201383.2:c.7543C>T | NP_958785.1:p.Gln2515Ter | |
| NM_201384.2:c.7531C>T | NP_958786.1:p.Gln2511Ter | |
| XM_005250976.2:c.7957C>T | XP_005251033.1:p.Gln2653Ter | |
| XM_005250978.2:c.7558C>T | XP_005251035.1:p.Gln2520Ter | |
| XM_005250979.3:c.7546C>T | XP_005251036.1:p.Gln2516Ter | |
| XM_005250980.3:c.7546C>T | XP_005251037.1:p.Gln2516Ter | |
| XM_005250981.2:c.7504C>T | XP_005251038.1:p.Gln2502Ter | |
| XM_005250982.2:c.7480C>T | XP_005251039.1:p.Gln2494Ter | |
| XM_005250983.2:c.7462C>T | XP_005251040.1:p.Gln2488Ter | |
| XM_005250984.3:c.7450C>T | XP_005251041.1:p.Gln2484Ter | |
| XM_006716588.2:c.7627C>T | XP_006716651.1:p.Gln2543Ter | |
| XM_006716589.2:c.7477C>T | XP_006716652.1:p.Gln2493Ter | |
| XM_006716590.2:c.7477C>T | XP_006716653.1:p.Gln2493Ter | |
| XM_011517130.1:c.7546C>T | XP_011515432.1:p.Gln2516Ter | |
| XM_011517131.1:c.7462C>T | XP_011515433.1:p.Gln2488Ter | |
| XM_011517132.1:c.4177C>T | XP_011515434.1:p.Gln1393Ter | |
| XM_005250976.4:c.7957C>T | XP_005251033.1:p.Gln2653Ter | |
| XM_005250978.3:c.7558C>T | XP_005251035.1:p.Gln2520Ter | |
| XM_005250979.4:c.7546C>T | XP_005251036.1:p.Gln2516Ter | |
| XM_005250980.4:c.7546C>T | XP_005251037.1:p.Gln2516Ter | |
| XM_005250981.3:c.7504C>T | XP_005251038.1:p.Gln2502Ter | |
| XM_005250982.4:c.7480C>T | XP_005251039.1:p.Gln2494Ter | |
| XM_005250984.5:c.7450C>T | XP_005251041.1:p.Gln2484Ter | |
| XM_006716588.3:c.7627C>T | XP_006716651.1:p.Gln2543Ter | |
| XM_006716590.3:c.7477C>T | XP_006716653.1:p.Gln2493Ter | |
| XM_011517130.2:c.7546C>T | XP_011515432.1:p.Gln2516Ter | |
| XM_011517131.2:c.7462C>T | XP_011515433.1:p.Gln2488Ter | |
| XM_011517132.2:c.4177C>T | XP_011515434.1:p.Gln1393Ter | |
| NM_000445.5:c.7612C>T | NP_000436.2:p.Gln2538Ter | |
| NM_201378.4:c.7489C>T MANE Plus Clinical | NP_958780.1:p.Gln2497Ter | |
| NM_201379.3:c.7465C>T | NP_958781.1:p.Gln2489Ter | |
| NM_201380.4:c.7942C>T | NP_958782.1:p.Gln2648Ter | |
| NM_201381.3:c.7435C>T | NP_958783.1:p.Gln2479Ter | |
| NM_201382.4:c.7531C>T | NP_958784.1:p.Gln2511Ter | |
| NM_201383.3:c.7543C>T | NP_958785.1:p.Gln2515Ter | |
| NM_201384.3:c.7531C>T MANE Select | NP_958786.1:p.Gln2511Ter |