Linked Data
dbSNP Id:
rs781912450
ExAC:
8:144990644 C / T
gnomAD v2:
8-144990644-C-T
gnomAD v4:
8-143916476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916476C>T , CM000670.2:g.143916476C>T | GRCh38 |
| NC_000008.10:g.144990644C>T , CM000670.1:g.144990644C>T | GRCh37 |
| NC_000008.9:g.145062632C>T | NCBI36 |
| NG_012492.1:g.65270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13477G>A | ENSP00000437303.2:p.Ala4493Thr | |
| ENST00000685198.1:c.13396G>A | ENSP00000510528.1:p.Ala4466Thr | |
| ENST00000687971.1:c.13063G>A | ENSP00000510788.1:p.Ala4355Thr | |
| ENST00000693060.1:c.13276G>A | ENSP00000510329.1:p.Ala4426Thr | |
| ENST00000345136.8:c.13345G>A MANE Select | ENSP00000344848.3:p.Ala4449Thr | |
| ENST00000527303.2:c.10045G>A | ENSP00000433982.2:p.Ala3349Thr | |
| ENST00000322810.8:c.13756G>A | ENSP00000323856.4:p.Ala4586Thr | |
| ENST00000345136.7:c.13345G>A | ENSP00000344848.3:p.Ala4449Thr | |
| ENST00000354589.7:c.13345G>A | ENSP00000346602.3:p.Ala4449Thr | |
| ENST00000354958.6:c.13279G>A | ENSP00000347044.2:p.Ala4427Thr | |
| ENST00000356346.7:c.13303G>A MANE Plus Clinical | ENSP00000348702.3:p.Ala4435Thr | |
| ENST00000357649.6:c.13357G>A | ENSP00000350277.2:p.Ala4453Thr | |
| ENST00000398774.6:c.13249G>A | ENSP00000381756.2:p.Ala4417Thr | |
| ENST00000436759.6:c.13426G>A | ENSP00000388180.2:p.Ala4476Thr | |
| ENST00000527096.5:c.13414G>A | ENSP00000434583.1:p.Ala4472Thr | |
| NM_000445.4:c.13426G>A | NP_000436.2:p.Ala4476Thr | |
| NM_201378.3:c.13303G>A | NP_958780.1:p.Ala4435Thr | |
| NM_201379.2:c.13279G>A | NP_958781.1:p.Ala4427Thr | |
| NM_201380.3:c.13756G>A | NP_958782.1:p.Ala4586Thr | |
| NM_201381.2:c.13249G>A | NP_958783.1:p.Ala4417Thr | |
| NM_201382.3:c.13345G>A | NP_958784.1:p.Ala4449Thr | |
| NM_201383.2:c.13357G>A | NP_958785.1:p.Ala4453Thr | |
| NM_201384.2:c.13345G>A | NP_958786.1:p.Ala4449Thr | |
| XM_005250976.2:c.13771G>A | XP_005251033.1:p.Ala4591Thr | |
| XM_005250978.2:c.13372G>A | XP_005251035.1:p.Ala4458Thr | |
| XM_005250979.3:c.13360G>A | XP_005251036.1:p.Ala4454Thr | |
| XM_005250980.3:c.13360G>A | XP_005251037.1:p.Ala4454Thr | |
| XM_005250981.2:c.13318G>A | XP_005251038.1:p.Ala4440Thr | |
| XM_005250982.2:c.13294G>A | XP_005251039.1:p.Ala4432Thr | |
| XM_005250983.2:c.13276G>A | XP_005251040.1:p.Ala4426Thr | |
| XM_005250984.3:c.13264G>A | XP_005251041.1:p.Ala4422Thr | |
| XM_006716588.2:c.13441G>A | XP_006716651.1:p.Ala4481Thr | |
| XM_006716589.2:c.13291G>A | XP_006716652.1:p.Ala4431Thr | |
| XM_006716590.2:c.13291G>A | XP_006716653.1:p.Ala4431Thr | |
| XM_011517130.1:c.13360G>A | XP_011515432.1:p.Ala4454Thr | |
| XM_011517131.1:c.13276G>A | XP_011515433.1:p.Ala4426Thr | |
| XM_011517132.1:c.9991G>A | XP_011515434.1:p.Ala3331Thr | |
| XM_005250976.4:c.13771G>A | XP_005251033.1:p.Ala4591Thr | |
| XM_005250978.3:c.13372G>A | XP_005251035.1:p.Ala4458Thr | |
| XM_005250979.4:c.13360G>A | XP_005251036.1:p.Ala4454Thr | |
| XM_005250980.4:c.13360G>A | XP_005251037.1:p.Ala4454Thr | |
| XM_005250981.3:c.13318G>A | XP_005251038.1:p.Ala4440Thr | |
| XM_005250982.4:c.13294G>A | XP_005251039.1:p.Ala4432Thr | |
| XM_005250984.5:c.13264G>A | XP_005251041.1:p.Ala4422Thr | |
| XM_006716588.3:c.13441G>A | XP_006716651.1:p.Ala4481Thr | |
| XM_006716590.3:c.13291G>A | XP_006716653.1:p.Ala4431Thr | |
| XM_011517130.2:c.13360G>A | XP_011515432.1:p.Ala4454Thr | |
| XM_011517131.2:c.13276G>A | XP_011515433.1:p.Ala4426Thr | |
| XM_011517132.2:c.9991G>A | XP_011515434.1:p.Ala3331Thr | |
| NM_000445.5:c.13426G>A | NP_000436.2:p.Ala4476Thr | |
| NM_201378.4:c.13303G>A MANE Plus Clinical | NP_958780.1:p.Ala4435Thr | |
| NM_201379.3:c.13279G>A | NP_958781.1:p.Ala4427Thr | |
| NM_201380.4:c.13756G>A | NP_958782.1:p.Ala4586Thr | |
| NM_201381.3:c.13249G>A | NP_958783.1:p.Ala4417Thr | |
| NM_201382.4:c.13345G>A | NP_958784.1:p.Ala4449Thr | |
| NM_201383.3:c.13357G>A | NP_958785.1:p.Ala4453Thr | |
| NM_201384.3:c.13345G>A MANE Select | NP_958786.1:p.Ala4449Thr |