Linked Data
dbSNP Id:
rs1239103457
gnomAD v2:
12-116420236-T-A
gnomAD v3:
12-115982431-T-A
gnomAD v4:
12-115982431-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982431T>A , CM000674.2:g.115982431T>A | GRCh38 |
| NC_000012.11:g.116420236T>A , CM000674.1:g.116420236T>A | GRCh37 |
| NC_000012.10:g.114904619T>A | NCBI36 |
| NG_023366.1:g.299756A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5128A>T MANE Select | ENSP00000281928.3:p.Met1710Leu | |
| ENST00000549786.2:c.4556A>T | ||
| ENST00000648379.1:n.3496A>T | ||
| ENST00000648737.1:n.4892A>T | ||
| ENST00000648825.1:n.1868A>T | ||
| ENST00000648916.1:n.3139A>T | ||
| ENST00000649146.1:n.2371A>T | ||
| ENST00000649607.1:c.3312A>T | ||
| ENST00000649775.1:c.1617A>T | ||
| ENST00000650226.1:c.5128A>T | ENSP00000496981.1:p.Met1710Leu | |
| ENST00000281928.7:c.5128A>T | ENSP00000281928.3:p.Met1710Leu | |
| ENST00000549786.1:c.492A>T | ||
| ENST00000552340.1:c.160A>T | ENSP00000449876.1:p.Met54Leu | |
| NM_015335.4:c.5128A>T | NP_056150.1:p.Met1710Leu | |
| XM_011538080.1:c.5128A>T | XP_011536382.1:p.Met1710Leu | |
| XM_011538081.1:c.5125A>T | XP_011536383.1:p.Met1709Leu | |
| XM_011538082.1:c.5098A>T | XP_011536384.1:p.Met1700Leu | |
| XM_011538080.2:c.5128A>T | XP_011536382.1:p.Met1710Leu | |
| XM_011538081.2:c.5125A>T | XP_011536383.1:p.Met1709Leu | |
| XM_011538082.2:c.5098A>T | XP_011536384.1:p.Met1700Leu | |
| XM_017019090.1:c.5125A>T | XP_016874579.1:p.Met1709Leu | |
| NM_015335.5:c.5128A>T MANE Select | NP_056150.1:p.Met1710Leu |