Linked Data
ClinVar Variation Id:
2886874
ClinVar RCV Id:
RCV003602894
dbSNP Id:
rs1270331554
gnomAD v2:
12-116429464-T-C
gnomAD v4:
12-115991659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991659T>C , CM000674.2:g.115991659T>C | GRCh38 |
| NC_000012.11:g.116429464T>C , CM000674.1:g.116429464T>C | GRCh37 |
| NC_000012.10:g.114913847T>C | NCBI36 |
| NG_023366.1:g.290528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3295A>G MANE Select | ENSP00000281928.3:p.Thr1099Ala | |
| ENST00000549786.2:c.2723A>G | ||
| ENST00000648379.1:n.1663A>G | ||
| ENST00000648737.1:n.3059A>G | ||
| ENST00000648825.1:n.35A>G | ||
| ENST00000648916.1:n.1306A>G | ||
| ENST00000649607.1:c.1479A>G | ||
| ENST00000650226.1:c.3295A>G | ENSP00000496981.1:p.Thr1099Ala | |
| ENST00000281928.7:c.3295A>G | ENSP00000281928.3:p.Thr1099Ala | |
| NM_015335.4:c.3295A>G | NP_056150.1:p.Thr1099Ala | |
| XM_011538080.1:c.3295A>G | XP_011536382.1:p.Thr1099Ala | |
| XM_011538081.1:c.3292A>G | XP_011536383.1:p.Thr1098Ala | |
| XM_011538082.1:c.3265A>G | XP_011536384.1:p.Thr1089Ala | |
| XM_011538080.2:c.3295A>G | XP_011536382.1:p.Thr1099Ala | |
| XM_011538081.2:c.3292A>G | XP_011536383.1:p.Thr1098Ala | |
| XM_011538082.2:c.3265A>G | XP_011536384.1:p.Thr1089Ala | |
| XM_017019090.1:c.3292A>G | XP_016874579.1:p.Thr1098Ala | |
| NM_015335.5:c.3295A>G MANE Select | NP_056150.1:p.Thr1099Ala |