Linked Data
ClinVar Variation Id:
2137558
ClinVar RCV Id:
RCV003062619
dbSNP Id:
rs764335885
ExAC:
14:23890235 G / C
gnomAD v2:
14-23890235-G-C
gnomAD v4:
14-23421026-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421026G>C , CM000676.2:g.23421026G>C | GRCh38 |
| NC_000014.8:g.23890235G>C , CM000676.1:g.23890235G>C | GRCh37 |
| NC_000014.7:g.22960075G>C | NCBI36 |
| NG_007884.1:g.19636C>G , LRG_384:g.19636C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3268C>G MANE Select | ENSP00000347507.3:p.Leu1090Val | |
| ENST00000355349.3:c.3268C>G | ENSP00000347507.3:p.Leu1090Val | |
| NM_000257.3:c.3268C>G | NP_000248.2:p.Leu1090Val | |
| XR_245686.3:n.3376C>G | ||
| XM_017021340.1:c.3268C>G | XP_016876829.1:p.Leu1090Val | |
| NM_000257.4:c.3268C>G MANE Select | NP_000248.2:p.Leu1090Val |