Linked Data
dbSNP Id:
rs780794369
ExAC:
14:23900712 G / A
gnomAD v2:
14-23900712-G-A
gnomAD v4:
14-23431503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431503G>A , CM000676.2:g.23431503G>A | GRCh38 |
| NC_000014.8:g.23900712G>A , CM000676.1:g.23900712G>A | GRCh37 |
| NC_000014.7:g.22970552G>A | NCBI36 |
| NG_007884.1:g.9159C>T , LRG_384:g.9159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.733-22C>T MANE Select | ENSP00000347507.3:n.733-22C>T | |
| ENST00000355349.3:c.733-22C>T | ENSP00000347507.3:n.733-22C>T | |
| NM_000257.3:c.733-22C>T | NP_000248.2:n.733-22C>T | |
| XR_245686.3:n.839-22C>T | ||
| XM_017021340.1:c.733-22C>T | XP_016876829.1:n.733-22C>T | |
| NM_000257.4:c.733-22C>T MANE Select | NP_000248.2:n.733-22C>T |