Linked Data
ClinVar Variation Id:
204093
ClinVar RCV Id:
RCV000186299
dbSNP Id:
rs796052061
gnomAD v4:
2-240869339-C-A
PubMed:
PMID:12559847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869339C>A , CM000664.2:g.240869339C>A | GRCh38 |
| NC_000002.11:g.241808756C>A , CM000664.1:g.241808756C>A | GRCh37 |
| NC_000002.10:g.241457429C>A | NCBI36 |
| NG_008005.1:g.5595C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.335C>A MANE Select | ENSP00000302620.3:p.Ala112Asp | |
| ENST00000307503.3:c.335C>A | ENSP00000302620.3:p.Ala112Asp | |
| ENST00000472436.1:n.355C>A | ||
| NM_000030.2:c.335C>A | NP_000021.1:p.Ala112Asp | |
| XR_924060.1:n.405+894G>T | ||
| NM_000030.3:c.335C>A MANE Select | NP_000021.1:p.Ala112Asp |