Linked Data
ClinVar Variation Id:
7928
dbSNP Id:
rs267607077
ExAC:
2:96953706 G / A
gnomAD v2:
2-96953706-G-A
gnomAD v4:
2-96287968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96287968G>A , CM000664.2:g.96287968G>A | GRCh38 |
| NC_000002.11:g.96953706G>A , CM000664.1:g.96953706G>A | GRCh37 |
| NC_000002.10:g.96317433G>A | NCBI36 |
| NG_016973.1:g.22592C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323853.10:c.3260C>T MANE Select | ENSP00000317123.5:p.Ser1087Leu | |
| ENST00000652267.1:c.3260C>T | ENSP00000498933.1:p.Ser1087Leu | |
| ENST00000323853.9:c.3260C>T | ENSP00000317123.5:p.Ser1087Leu | |
| ENST00000480615.1:n.377C>T | ||
| NM_014014.4:c.3260C>T | NP_054733.2:p.Ser1087Leu | |
| NM_014014.5:c.3260C>T MANE Select | NP_054733.2:p.Ser1087Leu |