Linked Data
dbSNP Id:
rs1442124699
gnomAD v2:
5-1444628-G-A
gnomAD v3:
5-1444513-G-A
gnomAD v4:
5-1444513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444513G>A , CM000667.2:g.1444513G>A | GRCh38 |
| NC_000005.9:g.1444628G>A , CM000667.1:g.1444628G>A | GRCh37 |
| NC_000005.8:g.1497628G>A | NCBI36 |
| NG_015885.1:g.5916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+835C>T MANE Select | ENSP00000270349.9:n.-46+835C>T | |
| ENST00000270349.11:c.-46+835C>T | ENSP00000270349.9:n.-46+835C>T | |
| NM_001044.4:c.-46+835C>T | NP_001035.1:n.-46+835C>T | |
| NM_001044.5:c.-46+835C>T MANE Select | NP_001035.1:n.-46+835C>T |