Linked Data
ClinVar Variation Id:
5749
ClinVar RCV Id:
RCV000006105
dbSNP Id:
rs3792876
gnomAD v2:
5-131637309-C-T
gnomAD v3:
5-132301616-C-T
gnomAD v4:
5-132301616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132301616C>T , CM000667.2:g.132301616C>T | GRCh38 |
| NC_000005.9:g.131637309C>T , CM000667.1:g.131637309C>T | GRCh37 |
| NC_000005.8:g.131665208C>T | NCBI36 |
| NG_012129.1:g.12165C>T | |
| NG_012129.2:g.12165C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200652.4:c.393+6607C>T MANE Select | ENSP00000200652.3:n.393+6607C>T | |
| ENST00000200652.3:c.393+6607C>T | ENSP00000200652.3:n.393+6607C>T | |
| ENST00000491257.1:n.197+5995C>T | ||
| NM_003059.2:c.393+6607C>T | NP_003050.2:n.393+6607C>T | |
| XM_006714675.2:c.-32+6607C>T | XP_006714738.1:n.-32+6607C>T | |
| XM_011543589.1:c.393+6607C>T | XP_011541891.1:n.393+6607C>T | |
| XR_948289.1:n.1238+5995C>T | ||
| XM_006714675.4:c.-32+6607C>T | XP_006714738.1:n.-32+6607C>T | |
| XM_011543589.2:c.393+6607C>T | XP_011541891.1:n.393+6607C>T | |
| XM_017009776.1:c.-136+5995C>T | XP_016865265.1:n.-136+5995C>T | |
| NM_003059.3:c.393+6607C>T MANE Select | NP_003050.2:n.393+6607C>T |