Linked Data
dbSNP Id:
rs773026759
ExAC:
7:100231115 G / T
gnomAD v2:
7-100231115-G-T
gnomAD v4:
7-100633492-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633492G>T , CM000669.2:g.100633492G>T | GRCh38 |
| NC_000007.13:g.100231115G>T , CM000669.1:g.100231115G>T | GRCh37 |
| NC_000007.12:g.100069051G>T | NCBI36 |
| NG_007989.1:g.13059C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.538C>A MANE Select | ENSP00000223051.3:p.Arg180Ser | |
| ENST00000223051.7:c.538C>A | ENSP00000223051.3:p.Arg180Ser | |
| ENST00000431692.5:c.538C>A | ENSP00000413905.1:p.Arg180Ser | |
| ENST00000462107.1:c.538C>A | ENSP00000420525.1:p.Arg180Ser | |
| ENST00000465294.5:n.543C>A | ||
| ENST00000475011.1:n.67C>A | ||
| ENST00000476304.5:n.159C>A | ||
| NM_001206855.1:c.25C>A | NP_001193784.1:p.Arg9Ser | |
| NM_003227.3:c.538C>A | NP_003218.2:p.Arg180Ser | |
| XM_005250553.3:c.538C>A | XP_005250610.1:p.Arg180Ser | |
| XM_005250554.3:c.538C>A | XP_005250611.1:p.Arg180Ser | |
| NM_001206855.2:c.25C>A | NP_001193784.1:p.Arg9Ser | |
| XM_005250553.4:c.538C>A | XP_005250610.1:p.Arg180Ser | |
| XM_017012573.1:c.538C>A | XP_016868062.1:p.Arg180Ser | |
| NM_003227.4:c.538C>A MANE Select | NP_003218.2:p.Arg180Ser | |
| NM_001206855.3:c.25C>A | NP_001193784.1:p.Arg9Ser |