Linked Data
dbSNP Id:
rs760175655
ExAC:
6:80816367 C / T
gnomAD v2:
6-80816367-C-T
gnomAD v4:
6-80106650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106650C>T , CM000668.2:g.80106650C>T | GRCh38 |
| NC_000006.11:g.80816367C>T , CM000668.1:g.80816367C>T | GRCh37 |
| NC_000006.10:g.80873086C>T | NCBI36 |
| NG_009775.1:g.5024C>T | |
| NG_009775.2:g.5024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.8:c.-44C>T | ENSP00000318351.5:n.-44C>T | |
| ENST00000356489.9:c.-44C>T | ENSP00000348880.5:n.-44C>T | |
| ENST00000369760.8:c.-44C>T | ENSP00000358775.4:n.-44C>T | |
| NM_000056.3:c.-44C>T | NP_000047.1:n.-44C>T | |
| NM_183050.2:c.-44C>T | NP_898871.1:n.-44C>T | |
| XM_006715542.2:c.-48C>T | XP_006715605.1:n.-48C>T | |
| NM_000056.4:c.-44C>T | NP_000047.1:n.-44C>T | |
| NM_001318975.1:c.-48C>T | NP_001305904.1:n.-48C>T | |
| NM_183050.3:c.-44C>T | NP_898871.1:n.-44C>T | |
| NR_134945.1:n.41C>T |