Linked Data
dbSNP Id:
rs1174058654
gnomAD v3:
11-19188290-C-T
gnomAD v4:
11-19188290-C-T
COSMIC:
COSM122394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188290C>T , CM000673.2:g.19188290C>T | GRCh38 |
| NC_000011.9:g.19209837C>T , CM000673.1:g.19209837C>T | GRCh37 |
| NC_000011.8:g.19166413C>T | NCBI36 |
| NG_011932.2:g.27284G>A , LRG_440:g.27284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.127G>A MANE Select | ENSP00000265968.3:p.Ala43Thr | |
| ENST00000533783.2:c.127G>A | ENSP00000431813.1:p.Ala43Thr | |
| ENST00000647990.1:c.127G>A | ENSP00000496798.1:p.Ala43Thr | |
| ENST00000648719.1:c.113-3245G>A | ENSP00000497633.1:n.113-3245G>A | |
| ENST00000649235.1:c.127G>A | ENSP00000497388.1:p.Ala43Thr | |
| ENST00000649842.1:c.113-1942G>A | ENSP00000497531.1:n.113-1942G>A | |
| ENST00000265968.7:c.127G>A | ENSP00000265968.3:p.Ala43Thr | |
| ENST00000533783.1:c.127G>A | ENSP00000431813.1:p.Ala43Thr | |
| NM_003476.4:c.127G>A | NP_003467.1:p.Ala43Thr | |
| XM_024448698.1:c.113-1942G>A | XP_024304466.1:n.113-1942G>A | |
| NM_001369404.1:c.113-1942G>A | NP_001356333.1:n.113-1942G>A | |
| NM_003476.5:c.127G>A MANE Select | NP_003467.1:p.Ala43Thr |