Linked Data
dbSNP Id:
rs751303704
ExAC:
9:139568287 T / C
gnomAD v2:
9-139568287-T-C
gnomAD v4:
9-136673835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673835T>C , CM000671.2:g.136673835T>C | GRCh38 |
| NC_000009.11:g.139568287T>C , CM000671.1:g.139568287T>C | GRCh37 |
| NC_000009.10:g.138688108T>C | NCBI36 |
| NG_008090.1:g.18625A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.754A>G MANE Select | ENSP00000360761.2:p.Met252Val | |
| ENST00000371694.7:c.658A>G | ENSP00000360759.3:p.Met220Val | |
| ENST00000371696.6:c.754A>G | ENSP00000360761.2:p.Met252Val | |
| ENST00000472820.1:n.682A>G | ||
| ENST00000538402.1:c.754A>G | ENSP00000438919.1:p.Met252Val | |
| NM_001012727.1:c.658A>G | NP_001012745.1:p.Met220Val | |
| NM_006412.3:c.754A>G | NP_006403.2:p.Met252Val | |
| NM_006412.4:c.754A>G MANE Select | NP_006403.2:p.Met252Val | |
| NM_001012727.2:c.658A>G | NP_001012745.1:p.Met220Val |