Linked Data
ClinVar Variation Id:
16980
ClinVar RCV Id:
RCV000018501
dbSNP Id:
rs121917825
PubMed:
PMID:10746562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20142729G>A , CM000675.2:g.20142729G>A | GRCh38 |
| NC_000013.10:g.20716868G>A , CM000675.1:g.20716868G>A | GRCh37 |
| NC_000013.9:g.19614868G>A | NCBI36 |
| NG_016399.1:g.23316C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241125.4:c.560C>T MANE Select | ENSP00000241125.3:p.Pro187Leu | |
| ENST00000241125.3:c.560C>T | ENSP00000241125.3:p.Pro187Leu | |
| NM_021954.3:c.560C>T | NP_068773.2:p.Pro187Leu | |
| XM_005266353.1:c.560C>T | XP_005266410.1:p.Pro187Leu | |
| XM_011535048.1:c.560C>T | XP_011533350.1:p.Pro187Leu | |
| XM_011535048.2:c.560C>T | XP_011533350.1:p.Pro187Leu | |
| NM_021954.4:c.560C>T MANE Select | NP_068773.2:p.Pro187Leu |