Linked Data
dbSNP Id:
rs777123891
ExAC:
19:7755416 T / A
gnomAD v2:
19-7755416-T-A
gnomAD v4:
19-7690530-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690530T>A , CM000681.2:g.7690530T>A | GRCh38 |
| NC_000019.9:g.7755416T>A , CM000681.1:g.7755416T>A | GRCh37 |
| NC_000019.8:g.7661416T>A | NCBI36 |
| NG_029554.1:g.16617A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.497A>T MANE Select | ENSP00000471974.1:p.Lys166Met | |
| ENST00000346664.9:c.497A>T | ENSP00000264072.6:p.Lys166Met | |
| ENST00000360067.8:c.494A>T | ENSP00000353178.4:p.Lys165Met | |
| ENST00000593418.1:c.434A>T | ENSP00000472067.1:p.Lys145Met | |
| ENST00000597312.5:n.1022A>T | ||
| ENST00000597921.5:c.497A>T | ENSP00000471974.1:p.Lys166Met | |
| ENST00000597934.1:n.859A>T | ||
| ENST00000598803.5:n.992A>T | ||
| NM_001207019.2:c.494A>T | NP_001193948.2:p.Lys165Met | |
| NM_001220500.1:c.497A>T | NP_001207429.1:p.Lys166Met | |
| NM_002002.4:c.497A>T | NP_001993.2:p.Lys166Met | |
| XM_005272462.3:c.497A>T | XP_005272519.1:p.Lys166Met | |
| XM_005272462.4:c.497A>T | XP_005272519.1:p.Lys166Met | |
| NM_001220500.2:c.497A>T MANE Select | NP_001207429.1:p.Lys166Met | |
| NM_001207019.3:c.494A>T | NP_001193948.2:p.Lys165Met | |
| NM_002002.5:c.497A>T | NP_001993.2:p.Lys166Met |