gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117393019C>T , CM000673.2:g.117393019C>T | GRCh38 |
| NC_000011.9:g.117263735C>T , CM000673.1:g.117263735C>T | GRCh37 |
| NC_000011.8:g.116768945C>T | NCBI36 |
| NG_033032.1:g.76242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278935.8:c.2509C>T MANE Select | ENSP00000278935.3:p.Arg837Ter | |
| ENST00000278935.7:c.2509C>T | ENSP00000278935.3:p.Arg837Ter | |
| ENST00000533223.1:n.3391C>T | ||
| ENST00000533675.5:n.2617C>T | ||
| ENST00000533706.5:n.1833C>T | ||
| NM_001271933.1:c.2518C>T | NP_001258862.1:p.Arg840Ter | |
| NM_014956.4:c.2509C>T | NP_055771.4:p.Arg837Ter | |
| XM_005271453.1:c.4195C>T | XP_005271510.1:p.Arg1399Ter | |
| XM_005271456.1:c.2509C>T | XP_005271513.1:p.Arg837Ter | |
| XM_005271457.1:c.2518C>T | XP_005271514.1:p.Arg840Ter | |
| XM_006718788.1:c.4204C>T | XP_006718851.1:p.Arg1402Ter | |
| XM_006718794.1:c.2431C>T | XP_006718857.1:p.Arg811Ter | |
| XM_011542670.1:c.4264C>T | XP_011540972.1:p.Arg1422Ter | |
| XM_011542671.1:c.4264C>T | XP_011540973.1:p.Arg1422Ter | |
| XM_011542672.1:c.4264C>T | XP_011540974.1:p.Arg1422Ter | |
| XM_011542673.1:c.4264C>T | XP_011540975.1:p.Arg1422Ter | |
| XM_011542674.1:c.4255C>T | XP_011540976.1:p.Arg1419Ter | |
| XM_011542675.1:c.4264C>T | XP_011540977.1:p.Arg1422Ter | |
| XM_011542676.1:c.4186C>T | XP_011540978.1:p.Arg1396Ter | |
| XM_011542677.1:c.4126C>T | XP_011540979.1:p.Arg1376Ter | |
| XM_011542678.1:c.4126C>T | XP_011540980.1:p.Arg1376Ter | |
| XM_011542679.1:c.4117C>T | XP_011540981.1:p.Arg1373Ter | |
| XM_011542680.1:c.4018C>T | XP_011540982.1:p.Arg1340Ter | |
| XM_011542681.1:c.3907C>T | XP_011540983.1:p.Arg1303Ter | |
| XM_011542682.1:c.2578C>T | XP_011540984.1:p.Arg860Ter | |
| XM_011542683.1:c.2578C>T | XP_011540985.1:p.Arg860Ter | |
| XM_011542685.1:c.2500C>T | XP_011540987.1:p.Arg834Ter | |
| XM_011542686.1:c.2500C>T | XP_011540988.1:p.Arg834Ter | |
| XM_011542687.1:c.2440C>T | XP_011540989.1:p.Arg814Ter | |
| XM_011542688.1:c.2239C>T | XP_011540990.1:p.Arg747Ter | |
| XR_428971.2:n.4475C>T | ||
| XR_947808.1:n.4682C>T | ||
| XR_947809.1:n.4682C>T | ||
| XR_947810.1:n.4613C>T | ||
| XR_947811.1:n.4818C>T | ||
| XM_017017364.1:c.4255C>T | XP_016872853.1:p.Arg1419Ter | |
| XM_017017365.1:c.4255C>T | XP_016872854.1:p.Arg1419Ter | |
| XM_017017366.1:c.4255C>T | XP_016872855.1:p.Arg1419Ter | |
| XM_017017367.1:c.4255C>T | XP_016872856.1:p.Arg1419Ter | |
| XM_017017368.1:c.4255C>T | XP_016872857.1:p.Arg1419Ter | |
| XM_017017369.1:c.4255C>T | XP_016872858.1:p.Arg1419Ter | |
| XM_017017370.1:c.4255C>T | XP_016872859.1:p.Arg1419Ter | |
| XM_017017371.1:c.4177C>T | XP_016872860.1:p.Arg1393Ter | |
| XM_017017372.1:c.4117C>T | XP_016872861.1:p.Arg1373Ter | |
| XM_017017373.2:c.4117C>T | XP_016872862.1:p.Arg1373Ter | |
| XM_017017374.1:c.4117C>T | XP_016872863.1:p.Arg1373Ter | |
| XM_017017375.2:c.4117C>T | XP_016872864.1:p.Arg1373Ter | |
| XM_017017376.1:c.4108C>T | XP_016872865.1:p.Arg1370Ter | |
| XM_017017377.2:c.4009C>T | XP_016872866.1:p.Arg1337Ter | |
| XM_017017378.1:c.3898C>T | XP_016872867.1:p.Arg1300Ter | |
| XM_017017379.1:c.2569C>T | XP_016872868.1:p.Arg857Ter | |
| XM_017017380.1:c.2569C>T | XP_016872869.1:p.Arg857Ter | |
| XM_017017381.1:c.2491C>T | XP_016872870.1:p.Arg831Ter | |
| XM_017017382.1:c.2491C>T | XP_016872871.1:p.Arg831Ter | |
| XM_017017383.1:c.2431C>T | XP_016872872.1:p.Arg811Ter | |
| XM_017017384.1:c.2431C>T | XP_016872873.1:p.Arg811Ter | |
| XM_017017385.1:c.2230C>T | XP_016872874.1:p.Arg744Ter | |
| XM_017017386.1:c.2146C>T | XP_016872875.1:p.Arg716Ter | |
| XR_001747793.1:n.4673C>T | ||
| XR_001747794.1:n.4673C>T | ||
| XR_002957132.1:n.4673C>T | ||
| XR_002957133.1:n.4613C>T | ||
| XR_428971.3:n.4475C>T | ||
| NM_014956.5:c.2509C>T MANE Select | NP_055771.4:p.Arg837Ter | |
| NM_001271933.2:c.2518C>T | NP_001258862.1:p.Arg840Ter |