Linked Data
ClinVar Variation Id:
801568
dbSNP Id:
rs1058405
ExAC:
1:161751741 A / G
gnomAD v2:
1-161751741-A-G
gnomAD v3:
1-161781951-A-G
gnomAD v4:
1-161781951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161781951A>G , CM000663.2:g.161781951A>G | GRCh38 |
| NC_000001.10:g.161751741A>G , CM000663.1:g.161751741A>G | GRCh37 |
| NC_000001.9:g.160018365A>G | NCBI36 |
| NG_029773.1:g.20708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.199A>G MANE Select | ENSP00000356919.3:p.Met67Val | |
| ENST00000679833.1:c.199A>G | ENSP00000505321.1:p.Met67Val | |
| ENST00000679853.1:c.199A>G | ENSP00000506149.1:p.Met67Val | |
| ENST00000679886.1:c.82+15509A>G | ENSP00000506559.1:n.82+15509A>G | |
| ENST00000680180.1:n.239A>G | ||
| ENST00000680462.1:c.199A>G | ENSP00000505583.1:p.Met67Val | |
| ENST00000680481.1:c.199A>G | ENSP00000505919.1:p.Met67Val | |
| ENST00000680633.1:c.1A>G | ENSP00000505371.1:p.Met1Val | |
| ENST00000680688.1:c.199A>G | ENSP00000504865.1:p.Met67Val | |
| ENST00000681001.1:c.*51A>G | ENSP00000506145.1:n.*51A>G | |
| ENST00000681036.1:c.1A>G | ENSP00000505474.1:p.Met1Val | |
| ENST00000681169.1:c.199A>G | ENSP00000505455.1:p.Met67Val | |
| ENST00000681187.1:n.239A>G | ||
| ENST00000681492.1:c.199A>G | ENSP00000506139.1:p.Met67Val | |
| ENST00000681541.1:c.1A>G | ENSP00000506087.1:p.Met1Val | |
| ENST00000681557.1:c.195A>G | ENSP00000506229.1:p.Ter65Trp | |
| ENST00000681738.1:c.199A>G | ENSP00000505025.1:p.Met67Val | |
| ENST00000681779.1:n.249A>G | ||
| ENST00000681801.1:c.199A>G | ENSP00000505998.1:p.Met67Val | |
| ENST00000681912.1:c.-30-9457A>G | ENSP00000505875.1:n.-30-9457A>G | |
| ENST00000367942.3:c.199A>G | ENSP00000356919.3:p.Met67Val | |
| NM_007348.3:c.199A>G | NP_031374.2:p.Met67Val | |
| XM_006711224.1:c.199A>G | XP_006711287.1:p.Met67Val | |
| XM_011509308.1:c.199A>G | XP_011507610.1:p.Met67Val | |
| XM_011509309.1:c.199A>G | XP_011507611.1:p.Met67Val | |
| XM_011509310.1:c.199A>G | XP_011507612.1:p.Met67Val | |
| XM_011509310.2:c.199A>G | XP_011507612.1:p.Met67Val | |
| NM_007348.4:c.199A>G MANE Select | NP_031374.2:p.Met67Val |