gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2089957G>A , CM000678.2:g.2089957G>A | GRCh38 |
| NC_000016.9:g.2139958G>A , CM000678.1:g.2139958G>A | GRCh37 |
| NC_000016.8:g.2079959G>A | NCBI36 |
| NG_005895.1:g.45652G>A , LRG_487:g.45652G>A | |
| NG_008617.1:g.53264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12682C>T MANE Select | ENSP00000262304.4:p.Arg4228Ter | |
| ENST00000262304.8:c.12682C>T | ENSP00000262304.4:p.Arg4228Ter | |
| ENST00000423118.5:c.12679C>T | ENSP00000399501.1:p.Arg4227Ter | |
| ENST00000472577.1:n.710C>T | ||
| NM_000296.3:c.12679C>T | NP_000287.3:p.Arg4227Ter | |
| NM_001009944.2:c.12682C>T | NP_001009944.2:p.Arg4228Ter | |
| XM_005255370.2:c.9637C>T | XP_005255427.1:p.Arg3213Ter | |
| XM_011522525.1:c.12760C>T | XP_011520827.1:p.Arg4254Ter | |
| XM_011522526.1:c.12757C>T | XP_011520828.1:p.Arg4253Ter | |
| XM_011522527.1:c.12742C>T | XP_011520829.1:p.Arg4248Ter | |
| XM_011522528.1:c.12736C>T | XP_011520830.1:p.Arg4246Ter | |
| XM_011522529.1:c.12733C>T | XP_011520831.1:p.Arg4245Ter | |
| XM_011522530.1:c.12706C>T | XP_011520832.1:p.Arg4236Ter | |
| XM_011522531.1:c.12688C>T | XP_011520833.1:p.Arg4230Ter | |
| XM_011522532.1:c.12634C>T | XP_011520834.1:p.Arg4212Ter | |
| XM_011522533.1:c.12553C>T | XP_011520835.1:p.Arg4185Ter | |
| XM_011522534.1:c.12496C>T | XP_011520836.1:p.Arg4166Ter | |
| XM_011522535.1:c.10582C>T | XP_011520837.1:p.Arg3528Ter | |
| XM_011522537.1:c.9760C>T | XP_011520839.1:p.Arg3254Ter | |
| XR_932867.1:n.12600C>T | ||
| XM_005255370.3:c.9637C>T | XP_005255427.1:p.Arg3213Ter | |
| XM_011522528.3:c.12736C>T | XP_011520830.1:p.Arg4246Ter | |
| XM_011522529.2:c.12733C>T | XP_011520831.1:p.Arg4245Ter | |
| XM_011522537.2:c.9760C>T | XP_011520839.1:p.Arg3254Ter | |
| XM_024450298.1:c.12802C>T | XP_024306066.1:p.Arg4268Ter | |
| XM_024450299.1:c.12730C>T | XP_024306067.1:p.Arg4244Ter | |
| XM_024450300.1:c.12592C>T | XP_024306068.1:p.Arg4198Ter | |
| XM_024450301.1:c.10678C>T | XP_024306069.1:p.Arg3560Ter | |
| NM_000296.4:c.12679C>T | NP_000287.4:p.Arg4227Ter | |
| NM_001009944.3:c.12682C>T MANE Select | NP_001009944.3:p.Arg4228Ter |