Linked Data
dbSNP Id:
rs1267358319
gnomAD v2:
10-115803938-T-A
gnomAD v3:
10-114044179-T-A
gnomAD v4:
10-114044179-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044179T>A , CM000672.2:g.114044179T>A | GRCh38 |
| NC_000010.10:g.115803938T>A , CM000672.1:g.115803938T>A | GRCh37 |
| NC_000010.9:g.115793928T>A | NCBI36 |
| NG_012187.1:g.5133T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.47T>A MANE Select | ENSP00000358301.2:p.Leu16Gln | |
| ENST00000369295.3:c.47T>A | ENSP00000358301.2:p.Leu16Gln | |
| NM_000684.2:c.47T>A | NP_000675.1:p.Leu16Gln | |
| NM_000684.3:c.47T>A MANE Select | NP_000675.1:p.Leu16Gln |