Linked Data
ClinVar Variation Id:
1621398
ClinVar RCV Id:
RCV002094134
dbSNP Id:
rs2135426566
gnomAD v4:
11-72230101-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72230101C>T , CM000673.2:g.72230101C>T | GRCh38 |
| NC_000011.9:g.71941145C>T , CM000673.1:g.71941145C>T | GRCh37 |
| NC_000011.8:g.71618793C>T | NCBI36 |
| NG_023253.1:g.10264C>T | |
| NG_023253.2:g.10264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.940-20C>T MANE Select | ENSP00000298229.2:n.940-20C>T | |
| ENST00000298229.6:c.940-20C>T | ENSP00000298229.2:n.940-20C>T | |
| ENST00000538751.5:c.214-20C>T | ENSP00000444619.1:n.214-20C>T | |
| ENST00000540329.5:c.124-20C>T | ENSP00000440018.1:n.124-20C>T | |
| ENST00000541756.5:c.742-20C>T | ENSP00000446360.2:n.742-20C>T | |
| NM_001567.3:c.940-20C>T | NP_001558.3:n.940-20C>T | |
| XM_005273978.3:c.1006-20C>T | XP_005274035.1:n.1006-20C>T | |
| XM_005273979.3:c.1006-20C>T | XP_005274036.1:n.1006-20C>T | |
| XM_011544999.1:c.940-20C>T | XP_011543301.1:n.940-20C>T | |
| XM_011545000.1:c.1006-20C>T | XP_011543302.1:n.1006-20C>T | |
| XM_005273979.4:c.1006-20C>T | XP_005274036.1:n.1006-20C>T | |
| XM_011544999.2:c.940-20C>T | XP_011543301.1:n.940-20C>T | |
| XM_024448501.1:c.1006-20C>T | XP_024304269.1:n.1006-20C>T | |
| XM_024448502.1:c.1006-20C>T | XP_024304270.1:n.1006-20C>T | |
| XM_024448503.1:c.976-20C>T | XP_024304271.1:n.976-20C>T | |
| XM_024448504.1:c.940-20C>T | XP_024304272.1:n.940-20C>T | |
| XM_024448505.1:c.1006-20C>T | XP_024304273.1:n.1006-20C>T | |
| NM_001567.4:c.940-20C>T MANE Select | NP_001558.3:n.940-20C>T |