Linked Data
dbSNP Id:
rs761515066
ExAC:
12:50344749 A / T
gnomAD v2:
12-50344749-A-T
gnomAD v4:
12-49950966-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950966A>T , CM000674.2:g.49950966A>T | GRCh38 |
| NC_000012.11:g.50344749A>T , CM000674.1:g.50344749A>T | GRCh37 |
| NC_000012.10:g.48631016A>T | NCBI36 |
| NG_008913.1:g.5226A>T , LRG_717:g.5226A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.136A>T MANE Select | ENSP00000199280.3:p.Met46Leu | |
| ENST00000199280.3:c.136A>T | ENSP00000199280.3:p.Met46Leu | |
| ENST00000550862.1:c.136A>T | ENSP00000450022.1:p.Met46Leu | |
| ENST00000551526.5:c.136A>T | ENSP00000447148.1:p.Met46Leu | |
| NM_000486.5:c.136A>T , LRG_717t1:c.136A>T | NP_000477.1:p.Met46Leu | |
| NM_000486.6:c.136A>T MANE Select | NP_000477.1:p.Met46Leu |