Linked Data
dbSNP Id:
rs1259520294
gnomAD v2:
6-151789306-C-A
gnomAD v3:
6-151468171-C-A
gnomAD v4:
6-151468171-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151468171C>A , CM000668.2:g.151468171C>A | GRCh38 |
| NC_000006.11:g.151789306C>A , CM000668.1:g.151789306C>A | GRCh37 |
| NC_000006.10:g.151830999C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367294.4:c.559-172C>A MANE Select | ENSP00000356263.3:n.559-172C>A | |
| ENST00000367294.3:c.559-172C>A | ENSP00000356263.3:n.559-172C>A | |
| ENST00000494826.1:c.*282-172C>A | ENSP00000435882.1:n.*282-172C>A | |
| ENST00000545879.5:c.202-172C>A | ENSP00000444121.1:n.202-172C>A | |
| NM_001286562.1:c.202-172C>A | NP_001273491.1:n.202-172C>A | |
| NM_024573.2:c.559-172C>A | NP_078849.1:n.559-172C>A | |
| NM_024573.3:c.559-172C>A MANE Select | NP_078849.1:n.559-172C>A | |
| NM_001286562.2:c.202-172C>A | NP_001273491.1:n.202-172C>A |