Linked Data
dbSNP Id:
rs370103806
ExAC:
14:23893405 C / T
gnomAD v2:
14-23893405-C-T
gnomAD v3:
14-23424196-C-T
gnomAD v4:
14-23424196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424196C>T , CM000676.2:g.23424196C>T | GRCh38 |
| NC_000014.8:g.23893405C>T , CM000676.1:g.23893405C>T | GRCh37 |
| NC_000014.7:g.22963245C>T | NCBI36 |
| NG_007884.1:g.16466G>A , LRG_384:g.16466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-47G>A MANE Select | ENSP00000347507.3:n.2680-47G>A | |
| ENST00000355349.3:c.2680-47G>A | ENSP00000347507.3:n.2680-47G>A | |
| NM_000257.3:c.2680-47G>A | NP_000248.2:n.2680-47G>A | |
| XR_245686.3:n.2786-47G>A | ||
| XM_017021340.1:c.2680-47G>A | XP_016876829.1:n.2680-47G>A | |
| NM_000257.4:c.2680-47G>A MANE Select | NP_000248.2:n.2680-47G>A |