Linked Data
dbSNP Id:
rs745416765
ExAC:
19:36339883 A / G
gnomAD v2:
19-36339883-A-G
gnomAD v3:
19-35848981-A-G
gnomAD v4:
19-35848981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848981A>G , CM000681.2:g.35848981A>G | GRCh38 |
| NC_000019.9:g.36339883A>G , CM000681.1:g.36339883A>G | GRCh37 |
| NC_000019.8:g.41031723A>G | NCBI36 |
| NG_013356.2:g.25307T>C , LRG_693:g.25307T>C | |
| NG_051206.1:g.2347A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1007T>C MANE Select | ENSP00000368190.4:p.Val336Ala | |
| ENST00000353632.6:c.1007T>C | ENSP00000343634.5:p.Val336Ala | |
| ENST00000378910.9:c.1007T>C | ENSP00000368190.4:p.Val336Ala | |
| ENST00000592132.1:n.14T>C | ||
| NM_004646.3:c.1007T>C , LRG_693t1:c.1007T>C | NP_004637.1:p.Val336Ala | |
| NM_004646.4:c.1007T>C MANE Select | NP_004637.1:p.Val336Ala |