Linked Data
dbSNP Id:
rs1474393308
gnomAD v3:
1-149927577-C-T
gnomAD v4:
1-149927577-C-T
MyVariant Identifiers:
chr1:g.149927577C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927577C>T , CM000663.2:g.149927577C>T | GRCh38 |
| NC_000001.10:g.149899469C>T , CM000663.1:g.149899469C>T | GRCh37 |
| NC_000001.9:g.148166093C>T | NCBI36 |
| NG_032777.1:g.5676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+149G>A MANE Select | ENSP00000271628.8:n.34+149G>A | |
| ENST00000271628.8:c.34+149G>A | ENSP00000271628.8:n.34+149G>A | |
| ENST00000457312.1:c.-241G>A | ENSP00000391114.1:n.-241G>A | |
| NM_005850.4:c.34+149G>A | NP_005841.1:n.34+149G>A | |
| NM_005850.5:c.34+149G>A MANE Select | NP_005841.1:n.34+149G>A |