Linked Data
ClinVar Variation Id:
204111
ClinVar RCV Id:
RCV000186317
dbSNP Id:
rs180177236
gnomAD v4:
2-240873001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873001G>A , CM000664.2:g.240873001G>A | GRCh38 |
| NC_000002.11:g.241812418G>A , CM000664.1:g.241812418G>A | GRCh37 |
| NC_000002.10:g.241461091G>A | NCBI36 |
| NG_008005.1:g.9257G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.547G>A MANE Select | ENSP00000302620.3:p.Asp183Asn | |
| ENST00000307503.3:c.547G>A | ENSP00000302620.3:p.Asp183Asn | |
| ENST00000472436.1:n.567G>A | ||
| ENST00000476698.1:n.284G>A | ||
| NM_000030.2:c.547G>A | NP_000021.1:p.Asp183Asn | |
| NM_000030.3:c.547G>A MANE Select | NP_000021.1:p.Asp183Asn |