Linked Data
ClinVar Variation Id:
1171749
ClinVar RCV Id:
RCV001525093
dbSNP Id:
rs1391789257
gnomAD v4:
14-23423727-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423727C>G , CM000676.2:g.23423727C>G | GRCh38 |
| NC_000014.8:g.23892936C>G , CM000676.1:g.23892936C>G | GRCh37 |
| NC_000014.7:g.22962776C>G | NCBI36 |
| NG_007884.1:g.16935G>C , LRG_384:g.16935G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2923-4G>C MANE Select | ENSP00000347507.3:n.2923-4G>C | |
| ENST00000355349.3:c.2923-4G>C | ENSP00000347507.3:n.2923-4G>C | |
| NM_000257.3:c.2923-4G>C | NP_000248.2:n.2923-4G>C | |
| XR_245686.3:n.3029-4G>C | ||
| XM_017021340.1:c.2923-4G>C | XP_016876829.1:n.2923-4G>C | |
| NM_000257.4:c.2923-4G>C MANE Select | NP_000248.2:n.2923-4G>C |