Linked Data
ClinVar Variation Id:
1550380
ClinVar RCV Id:
RCV002175425
dbSNP Id:
rs775914101
ExAC:
6:74354343 G / A
gnomAD v2:
6-74354343-G-A
gnomAD v3:
6-73644620-G-A
gnomAD v4:
6-73644620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644620G>A , CM000668.2:g.73644620G>A | GRCh38 |
| NC_000006.11:g.74354343G>A , CM000668.1:g.74354343G>A | GRCh37 |
| NC_000006.10:g.74411064G>A | NCBI36 |
| NG_008272.1:g.14395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.95-17C>T MANE Select | ENSP00000348019.5:n.95-17C>T | |
| ENST00000355773.5:c.95-17C>T | ENSP00000348019.5:n.95-17C>T | |
| NM_012434.4:c.95-17C>T | NP_036566.1:n.95-17C>T | |
| XM_005248710.2:c.44-17C>T | XP_005248767.1:n.44-17C>T | |
| XM_005248711.1:c.-104-17C>T | XP_005248768.1:n.-104-17C>T | |
| XM_011535750.1:c.95-17C>T | XP_011534052.1:n.95-17C>T | |
| XM_011535751.1:c.95-17C>T | XP_011534053.1:n.95-17C>T | |
| NM_012434.5:c.95-17C>T MANE Select | NP_036566.1:n.95-17C>T | |
| NM_001382629.1:c.61-2696C>T | NP_001369558.1:n.61-2696C>T | |
| NM_001382630.1:c.95-17C>T | NP_001369559.1:n.95-17C>T | |
| NM_001382631.1:c.116-17C>T | NP_001369560.1:n.116-17C>T | |
| NM_001382632.1:c.95-17C>T | NP_001369561.1:n.95-17C>T | |
| NM_001382633.1:c.95-17C>T | NP_001369562.1:n.95-17C>T | |
| NM_001382634.1:c.95-17C>T | NP_001369563.1:n.95-17C>T | |
| NM_001382635.1:c.95-17C>T | NP_001369564.1:n.95-17C>T | |
| NM_001382636.1:c.61-2696C>T | NP_001369565.1:n.61-2696C>T |