Linked Data
dbSNP Id:
rs762259305
ExAC:
14:24615438 G / A
gnomAD v2:
14-24615438-G-A
gnomAD v3:
14-24146229-G-A
gnomAD v4:
14-24146229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24146229G>A , CM000676.2:g.24146229G>A | GRCh38 |
| NC_000014.8:g.24615438G>A , CM000676.1:g.24615438G>A | GRCh37 |
| NC_000014.7:g.23685278G>A | NCBI36 |
| NG_042234.1:g.4355G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216802.10:c.60C>T MANE Select | ENSP00000216802.5:p.Phe20= | |
| ENST00000216802.9:c.60C>T | ENSP00000216802.5:p.Phe20= | |
| ENST00000471700.6:n.58C>T | ||
| ENST00000558273.5:c.60C>T | ENSP00000453195.1:p.Phe20= | |
| ENST00000558931.5:n.737C>T | ||
| ENST00000559056.5:c.-172C>T | ENSP00000452940.1:n.-172C>T | |
| ENST00000559453.5:n.10C>T | ||
| ENST00000559493.5:n.57C>T | ||
| ENST00000559613.1:n.108C>T | ||
| ENST00000560370.3:c.60C>T | ENSP00000453161.1:p.Phe20= | |
| ENST00000560410.5:c.48+305C>T | ENSP00000453487.1:n.48+305C>T | |
| ENST00000560592.5:n.100C>T | ||
| ENST00000560788.1:n.75C>T | ||
| ENST00000615264.4:c.60C>T | ENSP00000484569.1:p.Phe20= | |
| ENST00000630027.1:c.60C>T | ENSP00000485798.1:p.Phe20= | |
| NM_002818.2:c.60C>T | NP_002809.2:p.Phe20= | |
| XM_006720213.1:c.-296C>T | XP_006720276.1:n.-296C>T | |
| XM_006720213.2:c.-296C>T | XP_006720276.1:n.-296C>T | |
| NM_002818.3:c.60C>T MANE Select | NP_002809.2:p.Phe20= |