Linked Data
dbSNP Id:
rs748539196
ExAC:
22:50662816 G / A
gnomAD v2:
22-50662816-G-A
gnomAD v3:
22-50224387-G-A
gnomAD v4:
22-50224387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224387G>A , CM000684.2:g.50224387G>A | GRCh38 |
| NC_000022.10:g.50662816G>A , CM000684.1:g.50662816G>A | GRCh37 |
| NC_000022.9:g.49004943G>A | NCBI36 |
| NG_032160.1:g.25585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2099C>T MANE Select | ENSP00000248846.5:p.Ala700Val | |
| ENST00000248846.9:c.2099C>T | ENSP00000248846.5:p.Ala700Val | |
| ENST00000439308.6:c.2099C>T | ENSP00000397387.2:p.Ala700Val | |
| ENST00000473946.1:n.408C>T | ||
| ENST00000489511.5:n.116C>T | ||
| ENST00000491449.5:n.406C>T | ||
| ENST00000498611.5:n.2632C>T | ||
| NM_020461.3:c.2099C>T | NP_065194.2:p.Ala700Val | |
| XR_938347.1:n.2664C>T | ||
| XR_938348.1:n.2664C>T | ||
| XR_001755343.2:n.2668C>T | ||
| XR_001755344.2:n.2668C>T | ||
| XR_002958720.1:n.2668C>T | ||
| XR_938347.2:n.2668C>T | ||
| NM_020461.4:c.2099C>T MANE Select | NP_065194.3:p.Ala700Val |