Linked Data
ClinVar Variation Id:
2741049
ClinVar RCV Id:
RCV003575949
dbSNP Id:
rs1379779039
gnomAD v2:
6-157522377-T-A
gnomAD v3:
6-157201243-T-A
gnomAD v4:
6-157201243-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201243T>A , CM000668.2:g.157201243T>A | GRCh38 |
| NC_000006.11:g.157522377T>A , CM000668.1:g.157522377T>A | GRCh37 |
| NC_000006.10:g.157564069T>A | NCBI36 |
| NG_032093.1:g.428314T>A | |
| NG_032093.2:g.428314T>A | |
| NG_066624.1:g.430218T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4859T>A | ENSP00000055163.8:p.Ile1620Asn | |
| ENST00000414678.8:c.4928T>A | ENSP00000412835.3:p.Ile1643Asn | |
| ENST00000637015.2:c.5147T>A | ENSP00000489729.2:p.Ile1716Asn | |
| ENST00000346085.10:c.4898T>A | ENSP00000344546.5:p.Ile1633Asn | |
| ENST00000350026.10:c.4610T>A | ENSP00000055163.7:p.Ile1537Asn | |
| ENST00000414678.7:c.3176T>A | ENSP00000412835.2:p.Ile1059Asn | |
| ENST00000635849.1:c.2339T>A | ENSP00000490948.1:p.Ile780Asn | |
| ENST00000635957.1:c.1970T>A | ENSP00000490385.1:p.Ile657Asn | |
| ENST00000636227.1:n.3481T>A | ||
| ENST00000636254.1:n.938T>A | ||
| ENST00000636930.2:c.5018T>A MANE Select | ENSP00000490491.2:p.Ile1673Asn | |
| ENST00000636940.1:n.3015T>A | ||
| ENST00000637015.1:c.2386T>A | ||
| ENST00000637568.1:c.2300T>A | ||
| ENST00000637741.1:n.1684T>A | ||
| ENST00000637810.1:c.2360T>A | ENSP00000489636.1:p.Ile787Asn | |
| ENST00000637904.1:c.2519T>A | ENSP00000490550.1:p.Ile840Asn | |
| ENST00000647938.1:c.4649T>A | ENSP00000498155.1:p.Ile1550Asn | |
| ENST00000346085.9:c.4649T>A | ENSP00000344546.4:p.Ile1550Asn | |
| ENST00000350026.9:c.4610T>A | ENSP00000055163.7:p.Ile1537Asn | |
| ENST00000414678.6:c.3176T>A | ENSP00000412835.2:p.Ile1059Asn | |
| NM_017519.2:c.4610T>A | NP_059989.2:p.Ile1537Asn | |
| NM_020732.3:c.4649T>A | NP_065783.3:p.Ile1550Asn | |
| XM_005267069.3:c.4769T>A | XP_005267126.2:p.Ile1590Asn | |
| XM_011535984.1:c.3848T>A | XP_011534286.1:p.Ile1283Asn | |
| XM_011535985.1:c.3668T>A | XP_011534287.1:p.Ile1223Asn | |
| XM_011535986.1:c.3428T>A | XP_011534288.1:p.Ile1143Asn | |
| XM_011535987.1:c.3047T>A | XP_011534289.1:p.Ile1016Asn | |
| XM_011535988.1:c.1910T>A | XP_011534290.1:p.Ile637Asn | |
| NM_001346813.1:c.4769T>A | NP_001333742.1:p.Ile1590Asn | |
| NM_001363725.1:c.2519T>A | NP_001350654.1:p.Ile840Asn | |
| XM_011535984.2:c.4979T>A | XP_011534286.2:p.Ile1660Asn | |
| XM_011535988.3:c.1910T>A | XP_011534290.1:p.Ile637Asn | |
| XM_017011103.2:c.4880T>A | XP_016866592.1:p.Ile1627Asn | |
| XM_017011104.1:c.4850T>A | XP_016866593.1:p.Ile1617Asn | |
| XM_017011105.2:c.4820T>A | XP_016866594.1:p.Ile1607Asn | |
| XM_017011106.2:c.4691T>A | XP_016866595.1:p.Ile1564Asn | |
| XM_017011107.2:c.4670T>A | XP_016866596.1:p.Ile1557Asn | |
| XR_002956289.1:n.4965T>A | ||
| NM_001363725.2:c.2519T>A | NP_001350654.1:p.Ile840Asn | |
| NM_001371656.1:c.4898T>A | NP_001358585.1:p.Ile1633Asn | |
| NM_001374820.1:c.4898T>A | NP_001361749.1:p.Ile1633Asn | |
| NM_001374828.1:c.5018T>A MANE Select | NP_001361757.1:p.Ile1673Asn | |
| NM_017519.3:c.4859T>A | NP_059989.3:p.Ile1620Asn |