Linked Data
dbSNP Id:
rs756254880
ExAC:
17:76866987 G / A
gnomAD v2:
17-76866987-G-A
gnomAD v4:
17-78870905-G-A
COSMIC:
COSM3796170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78870905G>A , CM000679.2:g.78870905G>A | GRCh38 |
| NC_000017.10:g.76866987G>A , CM000679.1:g.76866987G>A | GRCh37 |
| NC_000017.9:g.74378582G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586713.6:c.102C>T | ENSP00000465968.2:p.Leu34= | |
| ENST00000706922.1:c.102C>T | ENSP00000516642.1:p.Leu34= | |
| ENST00000706923.1:c.102C>T | ENSP00000516643.1:p.Leu34= | |
| ENST00000262768.11:c.333C>T MANE Select | ENSP00000262768.6:p.Leu111= | |
| ENST00000536189.6:c.102C>T | ENSP00000441724.1:p.Leu34= | |
| ENST00000585421.5:c.102C>T | ENSP00000467584.1:p.Leu34= | |
| ENST00000586057.5:c.102C>T | ENSP00000468296.1:p.Leu34= | |
| ENST00000592761.2:c.102C>T | ENSP00000464930.1:p.Leu34= | |
| NM_003255.4:c.333C>T | NP_003246.1:p.Leu111= | |
| NM_003255.5:c.333C>T MANE Select | NP_003246.1:p.Leu111= |