Linked Data
ClinVar Variation Id:
2880504
ClinVar RCV Id:
RCV003713368
dbSNP Id:
rs143340388
ExAC:
1:27428932 C / G
gnomAD v2:
1-27428932-C-G
gnomAD v3:
1-27102441-C-G
gnomAD v4:
1-27102441-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27102441C>G , CM000663.2:g.27102441C>G | GRCh38 |
| NC_000001.10:g.27428932C>G , CM000663.1:g.27428932C>G | GRCh37 |
| NC_000001.9:g.27301519C>G | NCBI36 |
| NG_030006.1:g.57520G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.1764G>C MANE Select | ENSP00000263980.3:p.Leu588= | |
| ENST00000263980.7:c.1764G>C | ENSP00000263980.3:p.Leu588= | |
| ENST00000374089.5:n.989G>C | ||
| ENST00000447808.1:n.241G>C | ||
| NM_003047.4:c.1764G>C | NP_003038.2:p.Leu588= | |
| NR_046474.1:n.2099G>C | ||
| XM_011542021.1:c.1434G>C | XP_011540323.1:p.Leu478= | |
| XM_011542021.3:c.1434G>C | XP_011540323.1:p.Leu478= | |
| NM_003047.5:c.1764G>C MANE Select | NP_003038.2:p.Leu588= | |
| NR_046474.2:n.2094G>C |