Linked Data
ClinVar Variation Id:
326481
ClinVar RCV Id:
RCV003532087
dbSNP Id:
rs768150787
gnomAD v2:
18-29118925-C-G
gnomAD v4:
18-31538962-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31538962C>G , CM000680.2:g.31538962C>G | GRCh38 |
| NC_000018.9:g.29118925C>G , CM000680.1:g.29118925C>G | GRCh37 |
| NC_000018.8:g.27372923C>G | NCBI36 |
| NG_007072.3:g.45721C>G , LRG_397:g.45721C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.1863C>G MANE Select | ENSP00000261590.8:p.Ala621= | |
| ENST00000261590.12:c.1863C>G | ENSP00000261590.8:p.Ala621= | |
| NM_001943.3:c.1863C>G , LRG_397t1:c.1863C>G | NP_001934.2:p.Ala621= | |
| NM_001943.4:c.1863C>G | NP_001934.2:p.Ala621= | |
| XM_024451095.1:c.1329C>G | XP_024306863.1:p.Ala443= | |
| NM_001943.5:c.1863C>G MANE Select | NP_001934.2:p.Ala621= |