Linked Data
dbSNP Id:
rs775031326
ExAC:
14:23882931 G / A
gnomAD v2:
14-23882931-G-A
gnomAD v4:
14-23413722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23413722G>A , CM000676.2:g.23413722G>A | GRCh38 |
| NC_000014.8:g.23882931G>A , CM000676.1:g.23882931G>A | GRCh37 |
| NC_000014.7:g.22952771G>A | NCBI36 |
| NG_007884.1:g.26940C>T , LRG_384:g.26940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5790+37C>T MANE Select | ENSP00000347507.3:n.5790+37C>T | |
| ENST00000355349.3:c.5790+37C>T | ENSP00000347507.3:n.5790+37C>T | |
| NM_000257.3:c.5790+37C>T | NP_000248.2:n.5790+37C>T | |
| XM_017021340.1:c.5790+37C>T | XP_016876829.1:n.5790+37C>T | |
| NM_000257.4:c.5790+37C>T MANE Select | NP_000248.2:n.5790+37C>T |