Linked Data
ClinVar Variation Id:
1978724
ClinVar RCV Id:
RCV002765886
dbSNP Id:
rs756021430
ExAC:
12:125432705 G / A
gnomAD v2:
12-125432705-G-A
gnomAD v3:
12-124948159-G-A
gnomAD v4:
12-124948159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124948159G>A , CM000674.2:g.124948159G>A | GRCh38 |
| NC_000012.11:g.125432705G>A , CM000674.1:g.125432705G>A | GRCh37 |
| NC_000012.10:g.123998658G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3313C>T MANE Select | ENSP00000311135.2:p.Leu1105Phe | |
| ENST00000544745.2:c.2784C>T | ||
| ENST00000308736.6:c.3313C>T | ENSP00000311135.2:p.Leu1105Phe | |
| ENST00000507267.2:n.457C>T | ||
| ENST00000539298.1:n.3413C>T | ||
| ENST00000542400.5:n.1927C>T | ||
| ENST00000544745.1:c.2674C>T | ENSP00000439009.1:p.Leu892Phe | |
| NM_032656.3:c.3313C>T | NP_116045.2:p.Leu1105Phe | |
| XM_005253590.2:c.3313C>T | XP_005253647.1:p.Leu1105Phe | |
| XM_005253590.3:c.3313C>T | XP_005253647.1:p.Leu1105Phe | |
| XR_001748819.1:n.3453C>T | ||
| XR_001748820.1:n.3406C>T | ||
| NM_032656.4:c.3313C>T MANE Select | NP_116045.2:p.Leu1105Phe |