Linked Data
ClinVar Variation Id:
42935
ClinVar RCV Id:
RCV000035828
dbSNP Id:
rs397516173
gnomAD v4:
14-23424030-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424030A>G , CM000676.2:g.23424030A>G | GRCh38 |
| NC_000014.8:g.23893239A>G , CM000676.1:g.23893239A>G | GRCh37 |
| NC_000014.7:g.22963079A>G | NCBI36 |
| NG_007884.1:g.16632T>C , LRG_384:g.16632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2799T>C MANE Select | ENSP00000347507.3:p.Asn933= | |
| ENST00000355349.3:c.2799T>C | ENSP00000347507.3:p.Asn933= | |
| NM_000257.3:c.2799T>C | NP_000248.2:p.Asn933= | |
| XR_245686.3:n.2905T>C | ||
| XM_017021340.1:c.2799T>C | XP_016876829.1:p.Asn933= | |
| NM_000257.4:c.2799T>C MANE Select | NP_000248.2:p.Asn933= |