Linked Data
ClinVar Variation Id:
12620
ClinVar RCV Id:
RCV000013455
dbSNP Id:
rs121918679
gnomAD v2:
3-133485220-G-C
gnomAD v4:
3-133766376-G-C
PubMed:
PMID:11110675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766376G>C , CM000665.2:g.133766376G>C | GRCh38 |
| NC_000003.11:g.133485220G>C , CM000665.1:g.133485220G>C | GRCh37 |
| NC_000003.10:g.134967910G>C | NCBI36 |
| NG_013080.1:g.25244G>C | |
| NG_013080.2:g.109379G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1429G>C MANE Select | ENSP00000385834.3:p.Ala477Pro | |
| ENST00000402696.7:c.1429G>C | ENSP00000385834.3:p.Ala477Pro | |
| ENST00000461695.1:c.99G>C | ||
| NM_001063.3:c.1429G>C | NP_001054.1:p.Ala477Pro | |
| XM_011513100.1:c.1429G>C | XP_011511402.1:p.Ala477Pro | |
| NM_001354703.1:c.1297G>C | NP_001341632.1:p.Ala433Pro | |
| NM_001354704.1:c.1048G>C | NP_001341633.1:p.Ala350Pro | |
| NM_001063.4:c.1429G>C MANE Select | NP_001054.2:p.Ala477Pro | |
| NM_001354703.2:c.1297G>C | NP_001341632.2:p.Ala433Pro | |
| NM_001354704.2:c.1048G>C | NP_001341633.2:p.Ala350Pro |