Linked Data
ClinVar Variation Id:
161390
ClinVar RCV Id:
RCV001099621
dbSNP Id:
rs372820797
ExAC:
1:173878957 C / G
gnomAD v2:
1-173878957-C-G
gnomAD v3:
1-173909819-C-G
gnomAD v4:
1-173909819-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909819C>G , CM000663.2:g.173909819C>G | GRCh38 |
| NC_000001.10:g.173878957C>G , CM000663.1:g.173878957C>G | GRCh37 |
| NC_000001.9:g.172145580C>G | NCBI36 |
| NG_012462.1:g.12560G>C , LRG_577:g.12560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.886G>C MANE Select | ENSP00000356671.3:p.Ala296Pro | |
| ENST00000367698.3:c.886G>C | ENSP00000356671.3:p.Ala296Pro | |
| ENST00000487183.1:n.537G>C | ||
| ENST00000617423.4:c.559+2045G>C | ENSP00000478688.1:n.559+2045G>C | |
| NM_000488.3:c.886G>C , LRG_577t1:c.886G>C | NP_000479.1:p.Ala296Pro | |
| XM_005245198.2:c.742G>C | XP_005245255.1:p.Ala248Pro | |
| NM_001365052.1:c.742G>C | NP_001351981.1:p.Ala248Pro | |
| NM_000488.4:c.886G>C MANE Select | NP_000479.1:p.Ala296Pro | |
| NM_001365052.2:c.742G>C | NP_001351981.1:p.Ala248Pro | |
| NM_001386302.1:c.1009G>C | NP_001373231.1:p.Ala337Pro | |
| NM_001386303.1:c.967G>C | NP_001373232.1:p.Ala323Pro | |
| NM_001386304.1:c.865G>C | NP_001373233.1:p.Ala289Pro | |
| NM_001386305.1:c.829G>C | NP_001373234.1:p.Ala277Pro | |
| NM_001386306.1:c.670G>C | NP_001373235.1:p.Ala224Pro |