Linked Data
dbSNP Id:
rs1349896843
gnomAD v3:
1-149927632-A-G
gnomAD v4:
1-149927632-A-G
MyVariant Identifiers:
chr1:g.149927632A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927632A>G , CM000663.2:g.149927632A>G | GRCh38 |
| NC_000001.10:g.149899524A>G , CM000663.1:g.149899524A>G | GRCh37 |
| NC_000001.9:g.148166148A>G | NCBI36 |
| NG_032777.1:g.5621T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+94T>C MANE Select | ENSP00000271628.8:n.34+94T>C | |
| ENST00000271628.8:c.34+94T>C | ENSP00000271628.8:n.34+94T>C | |
| NM_005850.4:c.34+94T>C | NP_005841.1:n.34+94T>C | |
| NM_005850.5:c.34+94T>C MANE Select | NP_005841.1:n.34+94T>C |