Linked Data
dbSNP Id:
rs573892370
gnomAD v2:
6-151789293-G-T
gnomAD v3:
6-151468158-G-T
gnomAD v4:
6-151468158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151468158G>T , CM000668.2:g.151468158G>T | GRCh38 |
| NC_000006.11:g.151789293G>T , CM000668.1:g.151789293G>T | GRCh37 |
| NC_000006.10:g.151830986G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367294.4:c.559-185G>T MANE Select | ENSP00000356263.3:n.559-185G>T | |
| ENST00000367294.3:c.559-185G>T | ENSP00000356263.3:n.559-185G>T | |
| ENST00000494826.1:c.*282-185G>T | ENSP00000435882.1:n.*282-185G>T | |
| ENST00000545879.5:c.202-185G>T | ENSP00000444121.1:n.202-185G>T | |
| NM_001286562.1:c.202-185G>T | NP_001273491.1:n.202-185G>T | |
| NM_024573.2:c.559-185G>T | NP_078849.1:n.559-185G>T | |
| NM_024573.3:c.559-185G>T MANE Select | NP_078849.1:n.559-185G>T | |
| NM_001286562.2:c.202-185G>T | NP_001273491.1:n.202-185G>T |