Linked Data
dbSNP Id:
rs1432856987
gnomAD v2:
1-172634923-C-G
gnomAD v3:
1-172665783-C-G
gnomAD v4:
1-172665783-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665783C>G , CM000663.2:g.172665783C>G | GRCh38 |
| NC_000001.10:g.172634923C>G , CM000663.1:g.172634923C>G | GRCh37 |
| NC_000001.9:g.170901546C>G | NCBI36 |
| NG_007269.1:g.11739C>G , LRG_58:g.11739C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.613C>G MANE Select | ENSP00000356694.2:p.Leu205Val | |
| ENST00000340030.4:c.*183C>G | ENSP00000344739.3:n.*183C>G | |
| ENST00000367721.2:c.613C>G | ENSP00000356694.2:p.Leu205Val | |
| NM_000639.2:c.613C>G | NP_000630.1:p.Leu205Val | |
| NM_001302746.1:c.*183C>G | NP_001289675.1:n.*183C>G | |
| NM_000639.3:c.613C>G MANE Select | NP_000630.1:p.Leu205Val | |
| NM_001302746.2:c.*183C>G | NP_001289675.1:n.*183C>G |