Linked Data
ClinVar Variation Id:
313883
dbSNP Id:
rs146209388
ExAC:
14:68229413 G / A
gnomAD v2:
14-68229413-G-A
gnomAD v3:
14-67762696-G-A
gnomAD v4:
14-67762696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67762696G>A , CM000676.2:g.67762696G>A | GRCh38 |
| NC_000014.8:g.68229413G>A , CM000676.1:g.68229413G>A | GRCh37 |
| NC_000014.7:g.67299166G>A | NCBI36 |
| NG_011836.1:g.58894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6135C>T MANE Select | ENSP00000251119.5:p.Ala2045= | |
| ENST00000676512.1:c.6153C>T | ENSP00000504552.1:p.Ala2051= | |
| ENST00000676620.1:c.6057C>T | ENSP00000504587.1:p.Ala2019= | |
| ENST00000678386.1:c.6180C>T | ENSP00000503677.1:p.Ala2060= | |
| ENST00000347230.8:c.6135C>T | ENSP00000251119.5:p.Ala2045= | |
| ENST00000394455.6:n.1398C>T | ||
| ENST00000554523.5:n.6272C>T | ||
| ENST00000554557.5:c.*4113C>T | ENSP00000450431.1:n.*4113C>T | |
| ENST00000555452.1:c.6135C>T | ENSP00000450603.1:p.Ala2045= | |
| NM_015346.3:c.6135C>T | NP_056161.2:p.Ala2045= | |
| XM_006720093.2:c.6135C>T | XP_006720156.1:p.Ala2045= | |
| XM_011536606.1:c.4626C>T | XP_011534908.1:p.Ala1542= | |
| XM_011536607.1:c.3810C>T | XP_011534909.1:p.Ala1270= | |
| XM_011536608.1:c.3717C>T | XP_011534910.1:p.Ala1239= | |
| XM_017021124.1:c.6153C>T | XP_016876613.1:p.Ala2051= | |
| XM_017021125.1:c.6153C>T | XP_016876614.1:p.Ala2051= | |
| XM_017021126.1:c.4644C>T | XP_016876615.1:p.Ala1548= | |
| XM_017021127.2:c.3828C>T | XP_016876616.1:p.Ala1276= | |
| XM_017021128.1:c.3735C>T | XP_016876617.1:p.Ala1245= | |
| NM_015346.4:c.6135C>T MANE Select | NP_056161.2:p.Ala2045= |