Linked Data
ClinVar Variation Id:
2894893
ClinVar RCV Id:
RCV003726034
dbSNP Id:
rs748363079
ExAC:
6:157519969 T / C
gnomAD v2:
6-157519969-T-C
gnomAD v3:
6-157198835-T-C
gnomAD v4:
6-157198835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157198835T>C , CM000668.2:g.157198835T>C | GRCh38 |
| NC_000006.11:g.157519969T>C , CM000668.1:g.157519969T>C | GRCh37 |
| NC_000006.10:g.157561661T>C | NCBI36 |
| NG_032093.1:g.425906T>C | |
| NG_032093.2:g.425906T>C | |
| NG_066624.1:g.427810T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.4248T>C | ENSP00000055163.8:p.Tyr1416= | |
| ENST00000414678.8:c.4317T>C | ENSP00000412835.3:p.Tyr1439= | |
| ENST00000637015.2:c.4536T>C | ENSP00000489729.2:p.Tyr1512= | |
| ENST00000346085.10:c.4287T>C | ENSP00000344546.5:p.Tyr1429= | |
| ENST00000350026.10:c.3999T>C | ENSP00000055163.7:p.Tyr1333= | |
| ENST00000414678.7:c.2565T>C | ENSP00000412835.2:p.Tyr855= | |
| ENST00000635849.1:c.1728T>C | ENSP00000490948.1:p.Tyr576= | |
| ENST00000635957.1:c.1359T>C | ENSP00000490385.1:p.Tyr453= | |
| ENST00000636227.1:n.2870T>C | ||
| ENST00000636254.1:n.327T>C | ||
| ENST00000636930.2:c.4407T>C MANE Select | ENSP00000490491.2:p.Tyr1469= | |
| ENST00000636940.1:n.2404T>C | ||
| ENST00000637015.1:c.1775T>C | ||
| ENST00000637568.1:c.1689T>C | ||
| ENST00000637741.1:n.1073T>C | ||
| ENST00000637810.1:c.1749T>C | ENSP00000489636.1:p.Tyr583= | |
| ENST00000637904.1:c.1908T>C | ENSP00000490550.1:p.Tyr636= | |
| ENST00000647938.1:c.4038T>C | ENSP00000498155.1:p.Tyr1346= | |
| ENST00000346085.9:c.4038T>C | ENSP00000344546.4:p.Tyr1346= | |
| ENST00000350026.9:c.3999T>C | ENSP00000055163.7:p.Tyr1333= | |
| ENST00000414678.6:c.2565T>C | ENSP00000412835.2:p.Tyr855= | |
| NM_017519.2:c.3999T>C | NP_059989.2:p.Tyr1333= | |
| NM_020732.3:c.4038T>C | NP_065783.3:p.Tyr1346= | |
| XM_005267069.3:c.4158T>C | XP_005267126.2:p.Tyr1386= | |
| XM_011535984.1:c.3237T>C | XP_011534286.1:p.Tyr1079= | |
| XM_011535985.1:c.3057T>C | XP_011534287.1:p.Tyr1019= | |
| XM_011535986.1:c.2817T>C | XP_011534288.1:p.Tyr939= | |
| XM_011535987.1:c.2436T>C | XP_011534289.1:p.Tyr812= | |
| XM_011535988.1:c.1299T>C | XP_011534290.1:p.Tyr433= | |
| NM_001346813.1:c.4158T>C | NP_001333742.1:p.Tyr1386= | |
| NM_001363725.1:c.1908T>C | NP_001350654.1:p.Tyr636= | |
| XM_011535984.2:c.4368T>C | XP_011534286.2:p.Tyr1456= | |
| XM_011535988.3:c.1299T>C | XP_011534290.1:p.Tyr433= | |
| XM_017011103.2:c.4269T>C | XP_016866592.1:p.Tyr1423= | |
| XM_017011104.1:c.4239T>C | XP_016866593.1:p.Tyr1413= | |
| XM_017011105.2:c.4209T>C | XP_016866594.1:p.Tyr1403= | |
| XM_017011106.2:c.4080T>C | XP_016866595.1:p.Tyr1360= | |
| XM_017011107.2:c.4059T>C | XP_016866596.1:p.Tyr1353= | |
| XR_002956289.1:n.4427-1870T>C | ||
| NM_001363725.2:c.1908T>C | NP_001350654.1:p.Tyr636= | |
| NM_001371656.1:c.4287T>C | NP_001358585.1:p.Tyr1429= | |
| NM_001374820.1:c.4287T>C | NP_001361749.1:p.Tyr1429= | |
| NM_001374828.1:c.4407T>C MANE Select | NP_001361757.1:p.Tyr1469= | |
| NM_017519.3:c.4248T>C | NP_059989.3:p.Tyr1416= |