Linked Data
dbSNP Id:
rs988614715
gnomAD v4:
1-149927584-G-T
MyVariant Identifiers:
chr1:g.149927584G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927584G>T , CM000663.2:g.149927584G>T | GRCh38 |
| NC_000001.10:g.149899476G>T , CM000663.1:g.149899476G>T | GRCh37 |
| NC_000001.9:g.148166100G>T | NCBI36 |
| NG_032777.1:g.5669C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+142C>A MANE Select | ENSP00000271628.8:n.34+142C>A | |
| ENST00000271628.8:c.34+142C>A | ENSP00000271628.8:n.34+142C>A | |
| ENST00000457312.1:c.-248C>A | ENSP00000391114.1:n.-248C>A | |
| NM_005850.4:c.34+142C>A | NP_005841.1:n.34+142C>A | |
| NM_005850.5:c.34+142C>A MANE Select | NP_005841.1:n.34+142C>A |