Linked Data
dbSNP Id:
rs1227904876
gnomAD v2:
X-152031480-T-C
gnomAD v3:
X-152862936-T-C
gnomAD v4:
X-152862936-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152862936T>C , CM000685.2:g.152862936T>C | GRCh38 |
| NC_000023.10:g.152031480T>C , CM000685.1:g.152031480T>C | GRCh37 |
| NC_000023.9:g.151782136T>C | NCBI36 |
| NG_009163.1:g.36970T>C | |
| NG_009163.2:g.36970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.543+212T>C MANE Select | ENSP00000359297.3:n.543+212T>C | |
| ENST00000370274.7:c.543+212T>C | ENSP00000359297.3:n.543+212T>C | |
| ENST00000432467.1:c.543+212T>C | ENSP00000396266.1:n.543+212T>C | |
| ENST00000440023.5:c.543+212T>C | ENSP00000391854.1:n.543+212T>C | |
| NM_001129765.1:c.543+212T>C | NP_001123237.1:n.543+212T>C | |
| NM_015922.2:c.543+212T>C | NP_057006.1:n.543+212T>C | |
| XM_011531178.1:c.543+212T>C | XP_011529480.1:n.543+212T>C | |
| XM_011531178.2:c.543+212T>C | XP_011529480.1:n.543+212T>C | |
| XM_017029564.1:c.591+212T>C | XP_016885053.1:n.591+212T>C | |
| NM_015922.3:c.543+212T>C MANE Select | NP_057006.1:n.543+212T>C | |
| NM_001129765.2:c.543+212T>C | NP_001123237.1:n.543+212T>C |