Linked Data
ClinVar Variation Id:
56559
ClinVar RCV Id:
RCV000049972
dbSNP Id:
rs386833995
ExAC:
6:74354327 C / G
gnomAD v2:
6-74354327-C-G
gnomAD v4:
6-73644604-C-G
PubMed:
PMID:10947946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644604C>G , CM000668.2:g.73644604C>G | GRCh38 |
| NC_000006.11:g.74354327C>G , CM000668.1:g.74354327C>G | GRCh37 |
| NC_000006.10:g.74411048C>G | NCBI36 |
| NG_008272.1:g.14411G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.95-1G>C MANE Select | ENSP00000348019.5:n.95-1G>C | |
| ENST00000355773.5:c.95-1G>C | ENSP00000348019.5:n.95-1G>C | |
| NM_012434.4:c.95-1G>C | NP_036566.1:n.95-1G>C | |
| XM_005248710.2:c.44-1G>C | XP_005248767.1:n.44-1G>C | |
| XM_005248711.1:c.-104-1G>C | XP_005248768.1:n.-104-1G>C | |
| XM_011535750.1:c.95-1G>C | XP_011534052.1:n.95-1G>C | |
| XM_011535751.1:c.95-1G>C | XP_011534053.1:n.95-1G>C | |
| NM_012434.5:c.95-1G>C MANE Select | NP_036566.1:n.95-1G>C | |
| NM_001382629.1:c.61-2680G>C | NP_001369558.1:n.61-2680G>C | |
| NM_001382630.1:c.95-1G>C | NP_001369559.1:n.95-1G>C | |
| NM_001382631.1:c.116-1G>C | NP_001369560.1:n.116-1G>C | |
| NM_001382632.1:c.95-1G>C | NP_001369561.1:n.95-1G>C | |
| NM_001382633.1:c.95-1G>C | NP_001369562.1:n.95-1G>C | |
| NM_001382634.1:c.95-1G>C | NP_001369563.1:n.95-1G>C | |
| NM_001382635.1:c.95-1G>C | NP_001369564.1:n.95-1G>C | |
| NM_001382636.1:c.61-2680G>C | NP_001369565.1:n.61-2680G>C |