Linked Data
dbSNP Id:
rs777563497
ExAC:
6:31323976 A / T
gnomAD v3:
6-31356199-A-T
gnomAD v4:
6-31356199-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356199A>T , CM000668.2:g.31356199A>T | GRCh38 |
| NC_000006.11:g.31323976A>T , CM000668.1:g.31323976A>T | GRCh37 |
| NC_000006.10:g.31431955A>T | NCBI36 |
| NG_023187.1:g.6014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2060T>A | ||
| ENST00000481849.6:n.2060T>A | ||
| ENST00000497377.6:n.2060T>A | ||
| ENST00000640094.2:c.587T>A | ENSP00000491275.2:p.Leu196Gln | |
| ENST00000696558.1:c.587T>A | ENSP00000512716.1:p.Leu196Gln | |
| ENST00000696559.1:c.587T>A | ENSP00000512717.1:p.Leu196Gln | |
| ENST00000696560.1:c.587T>A | ENSP00000512718.1:p.Leu196Gln | |
| ENST00000696561.1:c.587T>A | ENSP00000512719.1:p.Leu196Gln | |
| ENST00000696562.1:c.587T>A | ENSP00000512720.1:p.Leu196Gln | |
| ENST00000412585.7:c.587T>A MANE Select | ENSP00000399168.2:p.Leu196Gln | |
| ENST00000412585.6:c.587T>A | ENSP00000399168.2:p.Leu196Gln | |
| ENST00000434333.1:c.620T>A | ENSP00000405931.1:p.Leu207Gln | |
| ENST00000474381.1:n.462T>A | ||
| ENST00000498007.1:n.853T>A | ||
| NM_005514.6:c.587T>A | NP_005505.2:p.Leu196Gln | |
| XM_011514556.1:c.620T>A | XP_011512858.1:p.Leu207Gln | |
| XM_011514557.1:c.587T>A | XP_011512859.1:p.Leu196Gln | |
| XR_926175.1:n.597T>A | ||
| NM_005514.7:c.587T>A | NP_005505.2:p.Leu196Gln | |
| NM_005514.8:c.587T>A MANE Select | NP_005505.2:p.Leu196Gln |