Linked Data
ClinVar Variation Id:
1612281
ClinVar RCV Id:
RCV002168515
dbSNP Id:
rs990602963
gnomAD v2:
X-30322900-G-C
gnomAD v4:
X-30304783-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304783G>C , CM000685.2:g.30304783G>C | GRCh38 |
| NC_000023.10:g.30322900G>C , CM000685.1:g.30322900G>C | GRCh37 |
| NC_000023.9:g.30232821G>C | NCBI36 |
| NG_009814.1:g.9596C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1209C>G MANE Select | ENSP00000368253.4:p.Leu403= | |
| ENST00000378970.4:c.1209C>G | ENSP00000368253.4:p.Leu403= | |
| NM_000475.4:c.1209C>G | NP_000466.2:p.Leu403= | |
| NM_000475.5:c.1209C>G MANE Select | NP_000466.2:p.Leu403= |