Linked Data
dbSNP Id:
rs146077641
ExAC:
6:157469954 G / C
gnomAD v2:
6-157469954-G-C
gnomAD v4:
6-157148820-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148820G>C , CM000668.2:g.157148820G>C | GRCh38 |
| NC_000006.11:g.157469954G>C , CM000668.1:g.157469954G>C | GRCh37 |
| NC_000006.10:g.157511646G>C | NCBI36 |
| NG_032093.1:g.375891G>C | |
| NG_032093.2:g.375891G>C | |
| NG_066624.1:g.377795G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2958G>C | ENSP00000055163.8:p.Met986Ile | |
| ENST00000414678.8:c.2868G>C | ENSP00000412835.3:p.Met956Ile | |
| ENST00000637015.2:c.2958G>C | ENSP00000489729.2:p.Met986Ile | |
| ENST00000319584.11:c.972G>C | ENSP00000313006.7:p.Met324Ile | |
| ENST00000346085.10:c.2997G>C | ENSP00000344546.5:p.Met999Ile | |
| ENST00000350026.10:c.2709G>C | ENSP00000055163.7:p.Met903Ile | |
| ENST00000414678.7:c.1116G>C | ENSP00000412835.2:p.Met372Ile | |
| ENST00000452544.2:n.859G>C | ||
| ENST00000635849.1:c.279G>C | ENSP00000490948.1:p.Met93Ile | |
| ENST00000636426.1:n.92G>C | ||
| ENST00000636930.2:c.2958G>C MANE Select | ENSP00000490491.2:p.Met986Ile | |
| ENST00000637015.1:c.197G>C | ||
| ENST00000637568.1:c.1G>C | ||
| ENST00000637810.1:c.459G>C | ENSP00000489636.1:p.Met153Ile | |
| ENST00000637904.1:c.459G>C | ENSP00000490550.1:p.Met153Ile | |
| ENST00000647938.1:c.2748G>C | ENSP00000498155.1:p.Met916Ile | |
| ENST00000674190.1:n.1707G>C | ||
| ENST00000319584.10:c.975G>C | ENSP00000313006.6:p.Met325Ile | |
| ENST00000346085.9:c.2748G>C | ENSP00000344546.4:p.Met916Ile | |
| ENST00000350026.9:c.2709G>C | ENSP00000055163.7:p.Met903Ile | |
| ENST00000414678.6:c.1116G>C | ENSP00000412835.2:p.Met372Ile | |
| ENST00000452544.1:n.805G>C | ||
| ENST00000478761.3:c.31G>C | ||
| NM_017519.2:c.2709G>C | NP_059989.2:p.Met903Ile | |
| NM_020732.3:c.2748G>C | NP_065783.3:p.Met916Ile | |
| XM_005267069.3:c.2709G>C | XP_005267126.2:p.Met903Ile | |
| XM_011535984.1:c.1659G>C | XP_011534286.1:p.Met553Ile | |
| XM_011535985.1:c.1479G>C | XP_011534287.1:p.Met493Ile | |
| XM_011535986.1:c.1239G>C | XP_011534288.1:p.Met413Ile | |
| XM_011535987.1:c.858G>C | XP_011534289.1:p.Met286Ile | |
| XM_011535988.1:c.-20+15613G>C | XP_011534290.1:n.-20+15613G>C | |
| NM_001346813.1:c.2709G>C | NP_001333742.1:p.Met903Ile | |
| NM_001363725.1:c.459G>C | NP_001350654.1:p.Met153Ile | |
| XM_011535984.2:c.2790G>C | XP_011534286.2:p.Met930Ile | |
| XM_011535988.3:c.-20+15613G>C | XP_011534290.1:n.-20+15613G>C | |
| XM_017011103.2:c.2790G>C | XP_016866592.1:p.Met930Ile | |
| XM_017011104.1:c.2790G>C | XP_016866593.1:p.Met930Ile | |
| XM_017011105.2:c.2790G>C | XP_016866594.1:p.Met930Ile | |
| XM_017011106.2:c.2790G>C | XP_016866595.1:p.Met930Ile | |
| XM_017011107.2:c.2610G>C | XP_016866596.1:p.Met870Ile | |
| XR_002956289.1:n.2873G>C | ||
| NM_001363725.2:c.459G>C | NP_001350654.1:p.Met153Ile | |
| NM_001371656.1:c.2997G>C | NP_001358585.1:p.Met999Ile | |
| NM_001374820.1:c.2997G>C | NP_001361749.1:p.Met999Ile | |
| NM_001374828.1:c.2958G>C MANE Select | NP_001361757.1:p.Met986Ile | |
| NM_017519.3:c.2958G>C | NP_059989.3:p.Met986Ile |