Linked Data
dbSNP Id:
rs1131279
ExAC:
6:31323958 T / G
gnomAD v2:
6-31323958-T-G
gnomAD v3:
6-31356181-T-G
gnomAD v4:
6-31356181-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356181T>G , CM000668.2:g.31356181T>G | GRCh38 |
| NC_000006.11:g.31323958T>G , CM000668.1:g.31323958T>G | GRCh37 |
| NC_000006.10:g.31431937T>G | NCBI36 |
| NG_023187.1:g.6032A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2078A>C | ||
| ENST00000481849.6:n.2078A>C | ||
| ENST00000497377.6:n.2078A>C | ||
| ENST00000640094.2:c.605A>C | ENSP00000491275.2:p.Lys202Thr | |
| ENST00000696558.1:c.605A>C | ENSP00000512716.1:p.Lys202Thr | |
| ENST00000696559.1:c.605A>C | ENSP00000512717.1:p.Lys202Thr | |
| ENST00000696560.1:c.605A>C | ENSP00000512718.1:p.Lys202Thr | |
| ENST00000696561.1:c.605A>C | ENSP00000512719.1:p.Lys202Thr | |
| ENST00000696562.1:c.605A>C | ENSP00000512720.1:p.Lys202Thr | |
| ENST00000412585.7:c.605A>C MANE Select | ENSP00000399168.2:p.Lys202Thr | |
| ENST00000412585.6:c.605A>C | ENSP00000399168.2:p.Lys202Thr | |
| ENST00000434333.1:c.638A>C | ENSP00000405931.1:p.Lys213Thr | |
| ENST00000474381.1:n.480A>C | ||
| ENST00000498007.1:n.871A>C | ||
| NM_005514.6:c.605A>C | NP_005505.2:p.Lys202Thr | |
| XM_011514556.1:c.638A>C | XP_011512858.1:p.Lys213Thr | |
| XM_011514557.1:c.605A>C | XP_011512859.1:p.Lys202Thr | |
| XR_926175.1:n.615A>C | ||
| NM_005514.7:c.605A>C | NP_005505.2:p.Lys202Thr | |
| NM_005514.8:c.605A>C MANE Select | NP_005505.2:p.Lys202Thr |