Linked Data
ClinVar Variation Id:
1691
ClinVar RCV Id:
RCV000001759
dbSNP Id:
rs121434329
ExAC:
12:96384250 G / A
gnomAD v2:
12-96384250-G-A
gnomAD v3:
12-95990472-G-A
gnomAD v4:
12-95990472-G-A
PubMed:
PMID:15806399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990472G>A , CM000674.2:g.95990472G>A | GRCh38 |
| NC_000012.11:g.96384250G>A , CM000674.1:g.96384250G>A | GRCh37 |
| NC_000012.10:g.94908381G>A | NCBI36 |
| NG_008180.1:g.10822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.776C>T MANE Select | ENSP00000261208.3:p.Pro259Leu | |
| ENST00000261208.7:c.776C>T | ENSP00000261208.3:p.Pro259Leu | |
| ENST00000538703.5:c.776C>T | ENSP00000440861.1:p.Pro259Leu | |
| ENST00000541929.5:c.152C>T | ENSP00000446364.1:p.Pro51Leu | |
| ENST00000544080.6:c.*205C>T | ENSP00000439385.2:n.*205C>T | |
| ENST00000546999.5:c.*205C>T | ENSP00000447675.1:n.*205C>T | |
| ENST00000549376.1:n.169C>T | ||
| ENST00000551562.1:n.36C>T | ||
| ENST00000552509.5:c.740C>T | ENSP00000450372.1:p.Pro247Leu | |
| NM_001258333.1:c.152C>T | NP_001245262.1:p.Pro51Leu | |
| NM_001258334.1:c.776C>T | NP_001245263.1:p.Pro259Leu | |
| NM_002108.3:c.776C>T | NP_002099.1:p.Pro259Leu | |
| XM_011538249.1:c.3+2208C>T | XP_011536551.1:n.3+2208C>T | |
| XM_011538249.2:c.3+2208C>T | XP_011536551.1:n.3+2208C>T | |
| NM_002108.4:c.776C>T MANE Select | NP_002099.1:p.Pro259Leu | |
| NM_001258334.2:c.776C>T | NP_001245263.1:p.Pro259Leu | |
| NM_001258333.2:c.152C>T | NP_001245262.1:p.Pro51Leu |