Linked Data
ClinVar Variation Id:
927111
dbSNP Id:
rs141438059
ExAC:
1:55529117 G / T
gnomAD v2:
1-55529117-G-T
gnomAD v3:
1-55063444-G-T
gnomAD v4:
1-55063444-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063444G>T , CM000663.2:g.55063444G>T | GRCh38 |
| NC_000001.10:g.55529117G>T , CM000663.1:g.55529117G>T | GRCh37 |
| NC_000001.9:g.55301705G>T | NCBI36 |
| NG_009061.1:g.28898G>T , LRG_275:g.28898G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*279G>T | ENSP00000501161.2:n.*279G>T | |
| ENST00000710286.1:c.2296G>T | ENSP00000518176.1:p.Ala766Ser | |
| ENST00000673903.1:c.1564G>T | ENSP00000501257.1:p.Ala522Ser | |
| ENST00000673913.1:c.789G>T | ENSP00000501161.1:n.789G>T | |
| ENST00000302118.5:c.1939G>T MANE Select | ENSP00000303208.5:p.Ala647Ser | |
| ENST00000490692.1:n.2485G>T | ||
| NM_174936.3:c.1939G>T , LRG_275t1:c.1939G>T | NP_777596.2:p.Ala647Ser | |
| NR_110451.1:n.1546G>T | ||
| XM_011541193.1:c.1060G>T | XP_011539495.1:p.Ala354Ser | |
| NM_174936.4:c.1939G>T MANE Select | NP_777596.2:p.Ala647Ser | |
| NR_110451.2:n.1546G>T |