Linked Data
ClinVar Variation Id:
1506522
ClinVar RCV Id:
RCV002036010
dbSNP Id:
rs752573519
ExAC:
2:182423375 T / A
gnomAD v2:
2-182423375-T-A
gnomAD v3:
2-181558648-T-A
gnomAD v4:
2-181558648-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558648T>A , CM000664.2:g.181558648T>A | GRCh38 |
| NC_000002.11:g.182423375T>A , CM000664.1:g.182423375T>A | GRCh37 |
| NC_000002.10:g.182131620T>A | NCBI36 |
| NG_021178.1:g.103460A>T | |
| NG_021178.2:g.103460A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-19A>T | ENSP00000508396.1:n.-19A>T | |
| ENST00000410087.8:c.738A>T MANE Select | ENSP00000386725.3:p.Arg246Ser | |
| ENST00000339098.9:c.816A>T | ENSP00000341159.5:p.Arg272Ser | |
| ENST00000374967.6:c.674A>T | ENSP00000364106.2:n.674A>T | |
| ENST00000374969.6:c.482-8940A>T | ENSP00000364108.2:n.482-8940A>T | |
| ENST00000374970.6:c.614-8940A>T | ENSP00000364109.2:n.614-8940A>T | |
| ENST00000409440.7:c.684A>T | ENSP00000387080.3:p.Arg228Ser | |
| ENST00000410087.7:c.738A>T | ENSP00000386725.3:p.Arg246Ser | |
| ENST00000421817.5:c.*20A>T | ENSP00000411466.1:n.*20A>T | |
| ENST00000452174.5:c.542A>T | ENSP00000409198.1:n.542A>T | |
| ENST00000479558.5:n.736A>T | ||
| ENST00000494398.5:n.738A>T | ||
| NM_001030311.2:c.816A>T | NP_001025482.1:p.Arg272Ser | |
| NM_001030312.2:c.482-8940A>T | NP_001025483.1:n.482-8940A>T | |
| NM_001030313.2:c.614-8940A>T | NP_001025484.1:n.614-8940A>T | |
| NM_001160277.1:c.684A>T | NP_001153749.1:p.Arg228Ser | |
| NM_201548.4:c.738A>T | NP_963842.1:p.Arg246Ser | |
| NR_027689.1:n.643A>T | ||
| NR_027690.1:n.775A>T | ||
| NM_201548.5:c.738A>T MANE Select | NP_963842.1:p.Arg246Ser | |
| NM_001030311.3:c.816A>T | NP_001025482.1:p.Arg272Ser | |
| NM_001030312.3:c.482-8940A>T | NP_001025483.1:n.482-8940A>T | |
| NM_001030313.3:c.614-8940A>T | NP_001025484.1:n.614-8940A>T | |
| NM_001160277.2:c.684A>T | NP_001153749.1:p.Arg228Ser | |
| NR_027689.2:n.641A>T | ||
| NR_027690.2:n.773A>T |