Linked Data
dbSNP Id:
rs425215
gnomAD v2:
21-43707101-C-G
gnomAD v3:
21-42286991-C-G
gnomAD v4:
21-42286991-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42286991C>G , CM000683.2:g.42286991C>G | GRCh38 |
| NC_000021.8:g.43707101C>G , CM000683.1:g.43707101C>G | GRCh37 |
| NC_000021.7:g.42580170C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398449.8:c.974-898C>G MANE Select | ENSP00000381467.3:n.974-898C>G | |
| ENST00000343687.7:c.1007-898C>G | ENSP00000339744.3:n.1007-898C>G | |
| ENST00000347800.6:c.965-898C>G | ENSP00000291524.4:n.965-898C>G | |
| ENST00000361802.6:c.974-898C>G | ENSP00000354995.2:n.974-898C>G | |
| ENST00000398437.1:c.1412-898C>G | ENSP00000381464.1:n.1412-898C>G | |
| ENST00000398449.7:c.974-898C>G | ENSP00000381467.3:n.974-898C>G | |
| ENST00000398457.6:c.980-898C>G | ENSP00000381475.2:n.980-898C>G | |
| ENST00000462050.5:n.1158-898C>G | ||
| ENST00000472587.5:n.988-898C>G | ||
| ENST00000496783.1:n.62-898C>G | ||
| NM_004915.3:c.974-898C>G | NP_004906.3:n.974-898C>G | |
| NM_016818.2:c.974-898C>G | NP_058198.2:n.974-898C>G | |
| NM_207174.1:c.1007-898C>G | NP_997057.1:n.1007-898C>G | |
| NM_207627.1:c.980-898C>G | NP_997510.1:n.980-898C>G | |
| NM_207628.1:c.908-898C>G | NP_997511.1:n.908-898C>G | |
| NM_207629.1:c.965-898C>G | NP_997512.1:n.965-898C>G | |
| XM_011529806.1:c.1007-898C>G | XP_011528108.1:n.1007-898C>G | |
| XM_011529807.1:c.1007-898C>G | XP_011528109.1:n.1007-898C>G | |
| XM_011529807.3:c.1007-898C>G | XP_011528109.1:n.1007-898C>G | |
| XM_024452141.1:c.1298-898C>G | XP_024307909.1:n.1298-898C>G | |
| NM_004915.4:c.974-898C>G | NP_004906.3:n.974-898C>G | |
| NM_016818.3:c.974-898C>G MANE Select | NP_058198.2:n.974-898C>G | |
| NM_207627.2:c.980-898C>G | NP_997510.1:n.980-898C>G | |
| NM_207629.2:c.965-898C>G | NP_997512.1:n.965-898C>G |