Linked Data
ClinVar Variation Id:
588208
dbSNP Id:
rs141190049
ExAC:
6:157510901 A / T
gnomAD v2:
6-157510901-A-T
gnomAD v3:
6-157189767-A-T
gnomAD v4:
6-157189767-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189767A>T , CM000668.2:g.157189767A>T | GRCh38 |
| NC_000006.11:g.157510901A>T , CM000668.1:g.157510901A>T | GRCh37 |
| NC_000006.10:g.157552593A>T | NCBI36 |
| NG_032093.1:g.416838A>T | |
| NG_032093.2:g.416838A>T | |
| NG_066624.1:g.418742A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3886A>T | ENSP00000055163.8:p.Met1296Leu | |
| ENST00000414678.8:c.3955A>T | ENSP00000412835.3:p.Met1319Leu | |
| ENST00000637015.2:c.4174A>T | ENSP00000489729.2:p.Met1392Leu | |
| ENST00000346085.10:c.3925A>T | ENSP00000344546.5:p.Met1309Leu | |
| ENST00000350026.10:c.3637A>T | ENSP00000055163.7:p.Met1213Leu | |
| ENST00000414678.7:c.2203A>T | ENSP00000412835.2:p.Met735Leu | |
| ENST00000635849.1:c.1366A>T | ENSP00000490948.1:p.Met456Leu | |
| ENST00000635957.1:c.1000A>T | ENSP00000490385.1:p.Met334Leu | |
| ENST00000636930.2:c.4045A>T MANE Select | ENSP00000490491.2:p.Met1349Leu | |
| ENST00000636940.1:n.2042A>T | ||
| ENST00000637015.1:c.1413A>T | ||
| ENST00000637568.1:c.1327A>T | ||
| ENST00000637741.1:n.711A>T | ||
| ENST00000637810.1:c.1387A>T | ENSP00000489636.1:p.Met463Leu | |
| ENST00000637904.1:c.1546A>T | ENSP00000490550.1:p.Met516Leu | |
| ENST00000647938.1:c.3676A>T | ENSP00000498155.1:p.Met1226Leu | |
| ENST00000346085.9:c.3676A>T | ENSP00000344546.4:p.Met1226Leu | |
| ENST00000350026.9:c.3637A>T | ENSP00000055163.7:p.Met1213Leu | |
| ENST00000414678.6:c.2203A>T | ENSP00000412835.2:p.Met735Leu | |
| NM_017519.2:c.3637A>T | NP_059989.2:p.Met1213Leu | |
| NM_020732.3:c.3676A>T | NP_065783.3:p.Met1226Leu | |
| XM_005267069.3:c.3796A>T | XP_005267126.2:p.Met1266Leu | |
| XM_011535984.1:c.2875A>T | XP_011534286.1:p.Met959Leu | |
| XM_011535985.1:c.2695A>T | XP_011534287.1:p.Met899Leu | |
| XM_011535986.1:c.2455A>T | XP_011534288.1:p.Met819Leu | |
| XM_011535987.1:c.2074A>T | XP_011534289.1:p.Met692Leu | |
| XM_011535988.1:c.937A>T | XP_011534290.1:p.Met313Leu | |
| NM_001346813.1:c.3796A>T | NP_001333742.1:p.Met1266Leu | |
| NM_001363725.1:c.1546A>T | NP_001350654.1:p.Met516Leu | |
| XM_011535984.2:c.4006A>T | XP_011534286.2:p.Met1336Leu | |
| XM_011535988.3:c.937A>T | XP_011534290.1:p.Met313Leu | |
| XM_017011103.2:c.3907A>T | XP_016866592.1:p.Met1303Leu | |
| XM_017011104.1:c.3877A>T | XP_016866593.1:p.Met1293Leu | |
| XM_017011105.2:c.3847A>T | XP_016866594.1:p.Met1283Leu | |
| XM_017011106.2:c.3718A>T | XP_016866595.1:p.Met1240Leu | |
| XM_017011107.2:c.3697A>T | XP_016866596.1:p.Met1233Leu | |
| XR_002956289.1:n.4089A>T | ||
| NM_001363725.2:c.1546A>T | NP_001350654.1:p.Met516Leu | |
| NM_001371656.1:c.3925A>T | NP_001358585.1:p.Met1309Leu | |
| NM_001374820.1:c.3925A>T | NP_001361749.1:p.Met1309Leu | |
| NM_001374828.1:c.4045A>T MANE Select | NP_001361757.1:p.Met1349Leu | |
| NM_017519.3:c.3886A>T | NP_059989.3:p.Met1296Leu |