Linked Data
ClinVar Variation Id:
5157
dbSNP Id:
rs121908368
ExAC:
7:138424286 G / A
gnomAD v2:
7-138424286-G-A
gnomAD v3:
7-138739541-G-A
gnomAD v4:
7-138739541-G-A
PubMed:
PMID:10973252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138739541G>A , CM000669.2:g.138739541G>A | GRCh38 |
| NC_000007.13:g.138424286G>A , CM000669.1:g.138424286G>A | GRCh37 |
| NC_000007.12:g.138074826G>A | NCBI36 |
| NG_008145.1:g.63656C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.1571C>T MANE Select | ENSP00000308122.2:p.Pro524Leu | |
| ENST00000478480.2:c.797C>T | ENSP00000495261.1:p.Pro266Leu | |
| ENST00000644341.1:c.797C>T | ENSP00000495642.1:p.Pro266Leu | |
| ENST00000645515.1:c.1571C>T | ENSP00000496421.1:p.Pro524Leu | |
| ENST00000647427.1:c.464C>T | ENSP00000496259.1:p.Pro155Leu | |
| ENST00000310018.6:c.1571C>T | ENSP00000308122.2:p.Pro524Leu | |
| ENST00000353492.4:c.1571C>T | ENSP00000253856.6:p.Pro524Leu | |
| ENST00000393054.5:c.1571C>T | ENSP00000376774.1:p.Pro524Leu | |
| ENST00000471085.1:n.252-5287C>T | ||
| NM_020632.2:c.1571C>T | NP_065683.2:p.Pro524Leu | |
| NM_130840.2:c.1571C>T | NP_570855.2:p.Pro524Leu | |
| NM_130841.2:c.1571C>T | NP_570856.2:p.Pro524Leu | |
| XM_005250393.1:c.1571C>T | XP_005250450.1:p.Pro524Leu | |
| XM_005250394.2:c.1571C>T | XP_005250451.1:p.Pro524Leu | |
| XM_005250394.3:c.1571C>T | XP_005250451.1:p.Pro524Leu | |
| NM_020632.3:c.1571C>T MANE Select | NP_065683.2:p.Pro524Leu | |
| NM_130840.3:c.1571C>T | NP_570855.2:p.Pro524Leu | |
| NM_130841.3:c.1571C>T | NP_570856.2:p.Pro524Leu |