Linked Data
dbSNP Id:
rs2273788
gnomAD v2:
9-114348617-C-T
gnomAD v3:
9-111586337-C-T
gnomAD v4:
9-111586337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111586337C>T , CM000671.2:g.111586337C>T | GRCh38 |
| NC_000009.11:g.114348617C>T , CM000671.1:g.114348617C>T | GRCh37 |
| NC_000009.10:g.113388438C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407693.7:c.210-172G>A MANE Select | ENSP00000385763.2:n.210-172G>A | |
| ENST00000466771.6:c.210-172G>A | ENSP00000435665.2:n.210-172G>A | |
| ENST00000538962.7:c.210-172G>A | ENSP00000440281.1:n.210-172G>A | |
| ENST00000309195.9:c.210-172G>A | ENSP00000311572.5:n.210-172G>A | |
| ENST00000374324.5:c.*107-172G>A | ENSP00000363444.1:n.*107-172G>A | |
| ENST00000407693.6:c.210-172G>A | ENSP00000385763.2:n.210-172G>A | |
| ENST00000422125.1:c.153-172G>A | ENSP00000395965.1:n.153-172G>A | |
| ENST00000538962.5:c.210-172G>A | ENSP00000440281.1:n.210-172G>A | |
| NM_001146108.1:c.210-172G>A | NP_001139580.1:n.210-172G>A | |
| NM_001146109.1:c.210-172G>A | NP_001139581.1:n.210-172G>A | |
| NM_012212.3:c.210-172G>A | NP_036344.2:n.210-172G>A | |
| XM_011518394.1:c.210-172G>A | XP_011516696.1:n.210-172G>A | |
| XM_011518395.1:c.-160-172G>A | XP_011516697.1:n.-160-172G>A | |
| XR_929738.1:n.473-172G>A | ||
| XM_011518394.2:c.210-172G>A | XP_011516696.1:n.210-172G>A | |
| XM_011518395.3:c.-160-172G>A | XP_011516697.1:n.-160-172G>A | |
| XM_017014485.2:c.210-172G>A | XP_016869974.1:n.210-172G>A | |
| XR_001746250.2:n.311-172G>A | ||
| XR_929738.2:n.473-172G>A | ||
| NM_001146108.2:c.210-172G>A MANE Select | NP_001139580.1:n.210-172G>A | |
| NM_001146109.2:c.210-172G>A | NP_001139581.1:n.210-172G>A |