Linked Data
dbSNP Id:
rs1346816281
gnomAD v2:
16-2140438-C-T
gnomAD v3:
16-2090437-C-T
gnomAD v4:
16-2090437-C-T
COSMIC:
COSM4059178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090437C>T , CM000678.2:g.2090437C>T | GRCh38 |
| NC_000016.9:g.2140438C>T , CM000678.1:g.2140438C>T | GRCh37 |
| NC_000016.8:g.2080439C>T | NCBI36 |
| NG_005895.1:g.46132C>T , LRG_487:g.46132C>T | |
| NG_008617.1:g.52784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12292G>A MANE Select | ENSP00000262304.4:p.Ala4098Thr | |
| ENST00000262304.8:c.12292G>A | ENSP00000262304.4:p.Ala4098Thr | |
| ENST00000423118.5:c.12289G>A | ENSP00000399501.1:p.Ala4097Thr | |
| ENST00000472577.1:n.320G>A | ||
| NM_000296.3:c.12289G>A | NP_000287.3:p.Ala4097Thr | |
| NM_001009944.2:c.12292G>A | NP_001009944.2:p.Ala4098Thr | |
| XM_005255370.2:c.9247G>A | XP_005255427.1:p.Ala3083Thr | |
| XM_011522525.1:c.12370G>A | XP_011520827.1:p.Ala4124Thr | |
| XM_011522526.1:c.12367G>A | XP_011520828.1:p.Ala4123Thr | |
| XM_011522527.1:c.12352G>A | XP_011520829.1:p.Ala4118Thr | |
| XM_011522528.1:c.12346G>A | XP_011520830.1:p.Ala4116Thr | |
| XM_011522529.1:c.12343G>A | XP_011520831.1:p.Ala4115Thr | |
| XM_011522530.1:c.12316G>A | XP_011520832.1:p.Ala4106Thr | |
| XM_011522531.1:c.12298G>A | XP_011520833.1:p.Ala4100Thr | |
| XM_011522532.1:c.12244G>A | XP_011520834.1:p.Ala4082Thr | |
| XM_011522533.1:c.12163G>A | XP_011520835.1:p.Ala4055Thr | |
| XM_011522534.1:c.12106G>A | XP_011520836.1:p.Ala4036Thr | |
| XM_011522535.1:c.10192G>A | XP_011520837.1:p.Ala3398Thr | |
| XM_011522537.1:c.9370G>A | XP_011520839.1:p.Ala3124Thr | |
| XR_932867.1:n.12210G>A | ||
| XM_005255370.3:c.9247G>A | XP_005255427.1:p.Ala3083Thr | |
| XM_011522528.3:c.12346G>A | XP_011520830.1:p.Ala4116Thr | |
| XM_011522529.2:c.12343G>A | XP_011520831.1:p.Ala4115Thr | |
| XM_011522537.2:c.9370G>A | XP_011520839.1:p.Ala3124Thr | |
| XM_024450298.1:c.12412G>A | XP_024306066.1:p.Ala4138Thr | |
| XM_024450299.1:c.12340G>A | XP_024306067.1:p.Ala4114Thr | |
| XM_024450300.1:c.12202G>A | XP_024306068.1:p.Ala4068Thr | |
| XM_024450301.1:c.10288G>A | XP_024306069.1:p.Ala3430Thr | |
| NM_000296.4:c.12289G>A | NP_000287.4:p.Ala4097Thr | |
| NM_001009944.3:c.12292G>A MANE Select | NP_001009944.3:p.Ala4098Thr |