Linked Data
ClinVar Variation Id:
472825
dbSNP Id:
rs148315164
ExAC:
11:65638075 T / A
gnomAD v2:
11-65638075-T-A
gnomAD v3:
11-65870604-T-A
gnomAD v4:
11-65870604-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65870604T>A , CM000673.2:g.65870604T>A | GRCh38 |
| NC_000011.9:g.65638075T>A , CM000673.1:g.65638075T>A | GRCh37 |
| NC_000011.8:g.65394651T>A | NCBI36 |
| NG_012304.2:g.7331A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.422A>T MANE Select | ENSP00000309953.6:p.His141Leu | |
| ENST00000307998.10:c.422A>T | ENSP00000309953.6:p.His141Leu | |
| ENST00000526624.5:c.422A>T | ENSP00000435419.1:p.His141Leu | |
| ENST00000527378.1:c.422A>T | ENSP00000435963.1:p.His141Leu | |
| ENST00000527969.1:n.101A>T | ||
| ENST00000528176.5:c.422A>T | ENSP00000434151.1:p.His141Leu | |
| ENST00000530850.1:c.*234A>T | ENSP00000437238.1:n.*234A>T | |
| ENST00000531005.5:n.1416A>T | ||
| ENST00000531972.5:c.422A>T | ENSP00000435295.1:p.His141Leu | |
| ENST00000533347.5:c.*234A>T | ENSP00000435823.1:n.*234A>T | |
| NM_016938.4:c.422A>T | NP_058634.4:p.His141Leu | |
| NR_037718.1:n.681A>T | ||
| NM_016938.5:c.422A>T MANE Select | NP_058634.4:p.His141Leu | |
| NR_037718.2:n.547A>T |