ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752064T>G , CM000673.2:g.64752064T>G | GRCh38 |
| NC_000011.9:g.64519536T>G , CM000673.1:g.64519536T>G | GRCh37 |
| NC_000011.8:g.64276112T>G | NCBI36 |
| NG_013018.1:g.13652A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1628A>C MANE Select | ENSP00000164139.3:p.Lys543Thr | |
| ENST00000164139.3:c.1628A>C | ENSP00000164139.3:p.Lys543Thr | |
| ENST00000377432.7:c.1364A>C | ENSP00000366650.3:p.Lys455Thr | |
| NM_001164716.1:c.1364A>C | NP_001158188.1:p.Lys455Thr | |
| NM_005609.2:c.1628A>C | NP_005600.1:p.Lys543Thr | |
| NM_005609.3:c.1628A>C | NP_005600.1:p.Lys543Thr | |
| NM_005609.4:c.1628A>C MANE Select | NP_005600.1:p.Lys543Thr |