Linked Data
ClinVar Variation Id:
2620
ClinVar RCV Id:
RCV000002738
dbSNP Id:
rs119457968
ExAC:
7:44579833 C / A
gnomAD v2:
7-44579833-C-A
gnomAD v3:
7-44540234-C-A
gnomAD v4:
7-44540234-C-A
PubMed:
PMID:15679830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44540234C>A , CM000669.2:g.44540234C>A | GRCh38 |
| NC_000007.13:g.44579833C>A , CM000669.1:g.44579833C>A | GRCh37 |
| NC_000007.12:g.44546358C>A | NCBI36 |
| NG_013088.1:g.6082G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381160.8:c.163G>T MANE Select | ENSP00000370552.3:p.Val55Leu | |
| ENST00000289547.8:c.163G>T | ENSP00000289547.4:p.Val55Leu | |
| ENST00000381160.7:c.163G>T | ENSP00000370552.3:p.Val55Leu | |
| ENST00000423141.1:c.163G>T | ENSP00000404670.1:p.Val55Leu | |
| ENST00000546276.5:c.163G>T | ENSP00000438033.1:p.Val55Leu | |
| NM_001101648.1:c.163G>T | NP_001095118.1:p.Val55Leu | |
| NM_001300967.1:c.163G>T | NP_001287896.1:p.Val55Leu | |
| NM_013389.2:c.163G>T | NP_037521.2:p.Val55Leu | |
| XM_011515326.1:c.163G>T | XP_011513628.1:p.Val55Leu | |
| XM_011515327.1:c.163G>T | XP_011513629.1:p.Val55Leu | |
| XM_011515326.3:c.163G>T | XP_011513628.1:p.Val55Leu | |
| XM_011515328.2:c.-1205G>T | XP_011513630.1:n.-1205G>T | |
| XR_002956423.1:n.555G>T | ||
| NM_001101648.2:c.163G>T MANE Select | NP_001095118.1:p.Val55Leu | |
| NM_001300967.2:c.163G>T | NP_001287896.1:p.Val55Leu | |
| NM_013389.3:c.163G>T | NP_037521.2:p.Val55Leu |