Linked Data
dbSNP Id:
rs7123390
ExAC:
11:45891418 G / A
gnomAD v2:
11-45891418-G-A
gnomAD v3:
11-45869867-G-A
gnomAD v4:
11-45869867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45869867G>A , CM000673.2:g.45869867G>A | GRCh38 |
| NC_000011.9:g.45891418G>A , CM000673.1:g.45891418G>A | GRCh37 |
| NC_000011.8:g.45847994G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616080.2:c.1194+50G>A MANE Select | ENSP00000484684.1:n.1194+50G>A | |
| ENST00000417225.6:c.1011+50G>A | ENSP00000397419.2:n.1011+50G>A | |
| ENST00000443527.6:c.1257+50G>A | ENSP00000406751.2:n.1257+50G>A | |
| ENST00000616080.1:c.1194+50G>A | ENSP00000484684.1:n.1194+50G>A | |
| ENST00000616623.4:c.1257+50G>A | ENSP00000478187.1:n.1257+50G>A | |
| NM_001127457.2:c.1011+50G>A | NP_001120929.1:n.1011+50G>A | |
| NM_021117.3:c.1257+50G>A | NP_066940.2:n.1257+50G>A | |
| NM_021117.4:c.1194+50G>A | NP_066940.3:n.1194+50G>A | |
| NM_021117.5:c.1194+50G>A MANE Select | NP_066940.3:n.1194+50G>A | |
| NM_001127457.3:c.1011+50G>A | NP_001120929.1:n.1011+50G>A |