Linked Data
ClinVar Variation Id:
1194870
ClinVar RCV Id:
RCV001557763
dbSNP Id:
rs114140320
gnomAD v2:
14-23890040-C-A
gnomAD v3:
14-23420831-C-A
gnomAD v4:
14-23420831-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420831C>A , CM000676.2:g.23420831C>A | GRCh38 |
| NC_000014.8:g.23890040C>A , CM000676.1:g.23890040C>A | GRCh37 |
| NC_000014.7:g.22959880C>A | NCBI36 |
| NG_007884.1:g.19831G>T , LRG_384:g.19831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+127G>T MANE Select | ENSP00000347507.3:n.3336+127G>T | |
| ENST00000355349.3:c.3336+127G>T | ENSP00000347507.3:n.3336+127G>T | |
| NM_000257.3:c.3336+127G>T | NP_000248.2:n.3336+127G>T | |
| XR_245686.3:n.3444+127G>T | ||
| XM_017021340.1:c.3336+127G>T | XP_016876829.1:n.3336+127G>T | |
| NM_000257.4:c.3336+127G>T MANE Select | NP_000248.2:n.3336+127G>T |