Linked Data
dbSNP Id:
rs754707768
ExAC:
3:186336346 G / C
gnomAD v2:
3-186336346-G-C
gnomAD v4:
3-186618557-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618557G>C , CM000665.2:g.186618557G>C | GRCh38 |
| NC_000003.11:g.186336346G>C , CM000665.1:g.186336346G>C | GRCh37 |
| NC_000003.10:g.187819040G>C | NCBI36 |
| NG_011436.1:g.10497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.595G>C MANE Select | ENSP00000393887.2:p.Val199Leu | |
| ENST00000273784.5:c.598G>C | ENSP00000273784.5:p.Val200Leu | |
| ENST00000411641.6:c.595G>C | ENSP00000393887.2:p.Val199Leu | |
| NM_001622.2:c.595G>C | NP_001613.2:p.Val199Leu | |
| NM_001354571.1:c.598G>C | NP_001341500.1:p.Val200Leu | |
| NM_001354572.1:c.592G>C | NP_001341501.1:p.Val198Leu | |
| NM_001354573.1:c.595G>C | NP_001341502.1:p.Val199Leu | |
| NM_001622.3:c.595G>C | NP_001613.2:p.Val199Leu | |
| NM_001622.4:c.595G>C MANE Select | NP_001613.2:p.Val199Leu | |
| NM_001354571.2:c.598G>C | NP_001341500.1:p.Val200Leu | |
| NM_001354572.2:c.592G>C | NP_001341501.1:p.Val198Leu | |
| NM_001354573.2:c.595G>C | NP_001341502.1:p.Val199Leu |