Linked Data
ClinVar Variation Id:
421550
dbSNP Id:
rs774954250
ExAC:
19:48807323 G / A
gnomAD v2:
19-48807323-G-A
gnomAD v3:
19-48304066-G-A
gnomAD v4:
19-48304066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48304066G>A , CM000681.2:g.48304066G>A | GRCh38 |
| NC_000019.9:g.48807323G>A , CM000681.1:g.48807323G>A | GRCh37 |
| NC_000019.8:g.53499135G>A | NCBI36 |
| NG_033251.1:g.21010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474199.6:c.740C>T | ENSP00000501357.1:p.Ala247Val | |
| ENST00000674207.1:c.*448C>T | ENSP00000501374.1:n.*448C>T | |
| ENST00000674294.1:c.740C>T MANE Select | ENSP00000501363.1:p.Ala247Val | |
| ENST00000315396.7:c.629C>T | ENSP00000318429.7:p.Ala210Val | |
| ENST00000474199.5:n.757C>T | ||
| NM_144577.3:c.629C>T | NP_653178.3:p.Ala210Val | |
| XM_005259413.2:c.740C>T | XP_005259470.1:p.Ala247Val | |
| XM_005259414.2:c.740C>T | XP_005259471.1:p.Ala247Val | |
| XM_005259415.2:c.740C>T | XP_005259472.1:p.Ala247Val | |
| XM_005259416.3:c.56C>T | XP_005259473.1:p.Ala19Val | |
| XM_011527515.1:c.629C>T | XP_011525817.1:p.Ala210Val | |
| XM_011527516.1:c.629C>T | XP_011525818.1:p.Ala210Val | |
| XM_011527517.1:c.740C>T | XP_011525819.1:p.Ala247Val | |
| XM_011527518.1:c.740C>T | XP_011525820.1:p.Ala247Val | |
| NM_001364171.1:c.740C>T | NP_001351100.1:p.Ala247Val | |
| NM_144577.4:c.629C>T | NP_653178.3:p.Ala210Val | |
| XM_005259414.3:c.740C>T | XP_005259471.1:p.Ala247Val | |
| XM_005259415.3:c.740C>T | XP_005259472.1:p.Ala247Val | |
| XM_005259416.4:c.56C>T | XP_005259473.1:p.Ala19Val | |
| XM_011527515.2:c.629C>T | XP_011525817.1:p.Ala210Val | |
| XM_011527516.2:c.629C>T | XP_011525818.1:p.Ala210Val | |
| XM_017027483.1:c.464C>T | XP_016882972.1:p.Ala155Val | |
| XM_024451782.1:c.779C>T | XP_024307550.1:p.Ala260Val | |
| XM_024451783.1:c.740C>T | XP_024307551.1:p.Ala247Val | |
| NM_001364171.2:c.740C>T MANE Select | NP_001351100.1:p.Ala247Val |