Linked Data
ClinVar Variation Id:
3227079
ClinVar RCV Id:
RCV004522244
dbSNP Id:
rs769988721
ExAC:
2:96919791 G / A
gnomAD v2:
2-96919791-G-A
gnomAD v4:
2-96254053-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254053G>A , CM000664.2:g.96254053G>A | GRCh38 |
| NC_000002.11:g.96919791G>A , CM000664.1:g.96919791G>A | GRCh37 |
| NC_000002.10:g.96283518G>A | NCBI36 |
| NG_027695.1:g.16961C>T , LRG_528:g.16961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.472C>T MANE Select | ENSP00000258439.3:p.Gln158Ter | |
| ENST00000258439.7:c.472C>T | ENSP00000258439.2:p.Gln158Ter | |
| ENST00000432959.1:c.472C>T | ENSP00000416660.1:p.Gln158Ter | |
| ENST00000435268.1:c.220C>T | ENSP00000411810.1:p.Gln74Ter | |
| NM_001193304.2:c.472C>T | NP_001180233.1:p.Gln158Ter | |
| NM_017849.3:c.472C>T , LRG_528t1:c.472C>T | NP_060319.1:p.Gln158Ter | |
| XM_017004450.1:c.-447C>T | XP_016859939.1:n.-447C>T | |
| XM_017004452.1:c.220C>T | XP_016859941.1:p.Gln74Ter | |
| NM_001193304.3:c.472C>T | NP_001180233.1:p.Gln158Ter | |
| NM_017849.4:c.472C>T MANE Select | NP_060319.1:p.Gln158Ter |