Linked Data
ClinVar Variation Id:
18240
ClinVar RCV Id:
RCV000019901
dbSNP Id:
rs77408163
ExAC:
4:74270124 G / A
gnomAD v2:
4-74270124-G-A
gnomAD v4:
4-73404407-G-A
PubMed:
PMID:11781148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404407G>A , CM000666.2:g.73404407G>A | GRCh38 |
| NC_000004.11:g.74270124G>A , CM000666.1:g.74270124G>A | GRCh37 |
| NC_000004.10:g.74488988G>A | NCBI36 |
| NG_009291.1:g.5153G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.79+1G>A MANE Select | ENSP00000295897.4:n.79+1G>A | |
| ENST00000295897.8:c.79+1G>A | ENSP00000295897.4:n.79+1G>A | |
| ENST00000401494.7:c.79+1G>A | ENSP00000384695.3:n.79+1G>A | |
| ENST00000415165.6:c.79+1G>A | ENSP00000401820.2:n.79+1G>A | |
| ENST00000441319.5:c.85+1G>A | ENSP00000392541.1:n.85+1G>A | |
| ENST00000476441.6:c.79+1G>A | ENSP00000423727.1:n.79+1G>A | |
| ENST00000503124.5:c.-102+1G>A | ENSP00000421027.1:n.-102+1G>A | |
| ENST00000509063.5:c.79+1G>A | ENSP00000422784.1:n.79+1G>A | |
| ENST00000510166.5:n.120+1G>A | ||
| ENST00000514786.1:n.48+71G>A | ||
| ENST00000515133.5:n.120+1G>A | ||
| ENST00000621085.4:c.79+1G>A | ENSP00000483421.1:n.79+1G>A | |
| ENST00000621628.4:c.79+1G>A | ENSP00000480485.1:n.79+1G>A | |
| NM_000477.5:c.79+1G>A | NP_000468.1:n.79+1G>A | |
| NM_000477.6:c.79+1G>A | NP_000468.1:n.79+1G>A | |
| NM_000477.7:c.79+1G>A MANE Select | NP_000468.1:n.79+1G>A |