gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090802G>A , CM000678.2:g.2090802G>A | GRCh38 |
| NC_000016.9:g.2140803G>A , CM000678.1:g.2140803G>A | GRCh37 |
| NC_000016.8:g.2080804G>A | NCBI36 |
| NG_005895.1:g.46497G>A , LRG_487:g.46497G>A | |
| NG_008617.1:g.52419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12010C>T MANE Select | ENSP00000262304.4:p.Gln4004Ter | |
| ENST00000262304.8:c.12010C>T | ENSP00000262304.4:p.Gln4004Ter | |
| ENST00000423118.5:c.12007C>T | ENSP00000399501.1:p.Gln4003Ter | |
| ENST00000472577.1:n.38C>T | ||
| ENST00000564313.1:n.531C>T | ||
| NM_000296.3:c.12007C>T | NP_000287.3:p.Gln4003Ter | |
| NM_001009944.2:c.12010C>T | NP_001009944.2:p.Gln4004Ter | |
| XM_005255370.2:c.8965C>T | XP_005255427.1:p.Gln2989Ter | |
| XM_011522525.1:c.12088C>T | XP_011520827.1:p.Gln4030Ter | |
| XM_011522526.1:c.12085C>T | XP_011520828.1:p.Gln4029Ter | |
| XM_011522527.1:c.12070C>T | XP_011520829.1:p.Gln4024Ter | |
| XM_011522528.1:c.12064C>T | XP_011520830.1:p.Gln4022Ter | |
| XM_011522529.1:c.12061C>T | XP_011520831.1:p.Gln4021Ter | |
| XM_011522530.1:c.12034C>T | XP_011520832.1:p.Gln4012Ter | |
| XM_011522531.1:c.12016C>T | XP_011520833.1:p.Gln4006Ter | |
| XM_011522532.1:c.11962C>T | XP_011520834.1:p.Gln3988Ter | |
| XM_011522533.1:c.11881C>T | XP_011520835.1:p.Gln3961Ter | |
| XM_011522534.1:c.11824C>T | XP_011520836.1:p.Gln3942Ter | |
| XM_011522535.1:c.9910C>T | XP_011520837.1:p.Gln3304Ter | |
| XM_011522537.1:c.9088C>T | XP_011520839.1:p.Gln3030Ter | |
| XR_932867.1:n.11928C>T | ||
| XR_932869.1:n.11675C>T | ||
| XM_005255370.3:c.8965C>T | XP_005255427.1:p.Gln2989Ter | |
| XM_011522528.3:c.12064C>T | XP_011520830.1:p.Gln4022Ter | |
| XM_011522529.2:c.12061C>T | XP_011520831.1:p.Gln4021Ter | |
| XM_011522537.2:c.9088C>T | XP_011520839.1:p.Gln3030Ter | |
| XM_024450298.1:c.12130C>T | XP_024306066.1:p.Gln4044Ter | |
| XM_024450299.1:c.12058C>T | XP_024306067.1:p.Gln4020Ter | |
| XM_024450300.1:c.11920C>T | XP_024306068.1:p.Gln3974Ter | |
| XM_024450301.1:c.10006C>T | XP_024306069.1:p.Gln3336Ter | |
| NM_000296.4:c.12007C>T | NP_000287.4:p.Gln4003Ter | |
| NM_001009944.3:c.12010C>T MANE Select | NP_001009944.3:p.Gln4004Ter |