Linked Data
ClinVar Variation Id:
402393
ClinVar RCV Id:
RCV000455027
dbSNP Id:
rs1060499843
gnomAD v4:
6-157148769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148769G>A , CM000668.2:g.157148769G>A | GRCh38 |
| NC_000006.11:g.157469903G>A , CM000668.1:g.157469903G>A | GRCh37 |
| NC_000006.10:g.157511595G>A | NCBI36 |
| NG_032093.1:g.375840G>A | |
| NG_032093.2:g.375840G>A | |
| NG_066624.1:g.377744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2907G>A | ENSP00000055163.8:p.Met969Ile | |
| ENST00000414678.8:c.2817G>A | ENSP00000412835.3:p.Met939Ile | |
| ENST00000637015.2:c.2907G>A | ENSP00000489729.2:p.Met969Ile | |
| ENST00000319584.11:c.921G>A | ENSP00000313006.7:p.Met307Ile | |
| ENST00000346085.10:c.2946G>A | ENSP00000344546.5:p.Met982Ile | |
| ENST00000350026.10:c.2658G>A | ENSP00000055163.7:p.Met886Ile | |
| ENST00000414678.7:c.1065G>A | ENSP00000412835.2:p.Met355Ile | |
| ENST00000452544.2:n.808G>A | ||
| ENST00000635849.1:c.228G>A | ENSP00000490948.1:p.Met76Ile | |
| ENST00000636426.1:n.41G>A | ||
| ENST00000636930.2:c.2907G>A MANE Select | ENSP00000490491.2:p.Met969Ile | |
| ENST00000637015.1:c.146G>A | ||
| ENST00000637810.1:c.408G>A | ENSP00000489636.1:p.Met136Ile | |
| ENST00000637904.1:c.408G>A | ENSP00000490550.1:p.Met136Ile | |
| ENST00000647938.1:c.2697G>A | ENSP00000498155.1:p.Met899Ile | |
| ENST00000674190.1:n.1656G>A | ||
| ENST00000319584.10:c.924G>A | ENSP00000313006.6:p.Met308Ile | |
| ENST00000346085.9:c.2697G>A | ENSP00000344546.4:p.Met899Ile | |
| ENST00000350026.9:c.2658G>A | ENSP00000055163.7:p.Met886Ile | |
| ENST00000414678.6:c.1065G>A | ENSP00000412835.2:p.Met355Ile | |
| ENST00000452544.1:n.754G>A | ||
| NM_017519.2:c.2658G>A | NP_059989.2:p.Met886Ile | |
| NM_020732.3:c.2697G>A | NP_065783.3:p.Met899Ile | |
| XM_005267069.3:c.2658G>A | XP_005267126.2:p.Met886Ile | |
| XM_011535984.1:c.1608G>A | XP_011534286.1:p.Met536Ile | |
| XM_011535985.1:c.1428G>A | XP_011534287.1:p.Met476Ile | |
| XM_011535986.1:c.1188G>A | XP_011534288.1:p.Met396Ile | |
| XM_011535987.1:c.807G>A | XP_011534289.1:p.Met269Ile | |
| XM_011535988.1:c.-20+15562G>A | XP_011534290.1:n.-20+15562G>A | |
| NM_001346813.1:c.2658G>A | NP_001333742.1:p.Met886Ile | |
| NM_001363725.1:c.408G>A | NP_001350654.1:p.Met136Ile | |
| XM_011535984.2:c.2739G>A | XP_011534286.2:p.Met913Ile | |
| XM_011535988.3:c.-20+15562G>A | XP_011534290.1:n.-20+15562G>A | |
| XM_017011103.2:c.2739G>A | XP_016866592.1:p.Met913Ile | |
| XM_017011104.1:c.2739G>A | XP_016866593.1:p.Met913Ile | |
| XM_017011105.2:c.2739G>A | XP_016866594.1:p.Met913Ile | |
| XM_017011106.2:c.2739G>A | XP_016866595.1:p.Met913Ile | |
| XM_017011107.2:c.2559G>A | XP_016866596.1:p.Met853Ile | |
| XR_002956289.1:n.2822G>A | ||
| NM_001363725.2:c.408G>A | NP_001350654.1:p.Met136Ile | |
| NM_001371656.1:c.2946G>A | NP_001358585.1:p.Met982Ile | |
| NM_001374820.1:c.2946G>A | NP_001361749.1:p.Met982Ile | |
| NM_001374828.1:c.2907G>A MANE Select | NP_001361757.1:p.Met969Ile | |
| NM_017519.3:c.2907G>A | NP_059989.3:p.Met969Ile |