Linked Data
ClinVar Variation Id:
1041194
ClinVar RCV Id:
RCV001344959
dbSNP Id:
rs370727666
ExAC:
2:29293587 G / C
gnomAD v2:
2-29293587-G-C
gnomAD v3:
2-29070721-G-C
gnomAD v4:
2-29070721-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070721G>C , CM000664.2:g.29070721G>C | GRCh38 |
| NC_000002.11:g.29293587G>C , CM000664.1:g.29293587G>C | GRCh37 |
| NC_000002.10:g.29147091G>C | NCBI36 |
| NG_021427.1:g.8541C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3541C>G MANE Select | ENSP00000332809.4:p.Leu1181Val | |
| ENST00000331664.5:c.3541C>G | ENSP00000332809.4:p.Leu1181Val | |
| NM_001029883.2:c.3541C>G | NP_001025054.1:p.Leu1181Val | |
| XM_011532826.1:c.3541C>G | XP_011531128.1:p.Leu1181Val | |
| XR_939901.1:n.185+1554G>C | ||
| XR_939902.1:n.173+1566G>C | ||
| NM_001029883.3:c.3541C>G MANE Select | NP_001025054.1:p.Leu1181Val |