Linked Data
ClinVar Variation Id:
1944913
ClinVar RCV Id:
RCV002640008
dbSNP Id:
rs748856336
ExAC:
4:187118674 C / T
gnomAD v2:
4-187118674-C-T
gnomAD v4:
4-186197520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197520C>T , CM000666.2:g.186197520C>T | GRCh38 |
| NC_000004.11:g.187118674C>T , CM000666.1:g.187118674C>T | GRCh37 |
| NC_000004.10:g.187355668C>T | NCBI36 |
| NG_007965.1:g.11001C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.605-13C>T MANE Select | ENSP00000368079.4:n.605-13C>T | |
| ENST00000378802.4:c.605-13C>T | ENSP00000368079.4:n.605-13C>T | |
| ENST00000507209.5:n.1433C>T | ||
| NM_207352.3:c.605-13C>T | NP_997235.3:n.605-13C>T | |
| XM_005262935.2:c.605-13C>T | XP_005262992.1:n.605-13C>T | |
| XM_006714184.2:c.209-13C>T | XP_006714247.1:n.209-13C>T | |
| XM_005262935.4:c.605-13C>T | XP_005262992.1:n.605-13C>T | |
| XM_017008037.1:c.209-13C>T | XP_016863526.1:n.209-13C>T | |
| NM_207352.4:c.605-13C>T MANE Select | NP_997235.3:n.605-13C>T |