Linked Data
ClinVar Variation Id:
525465
ClinVar RCV Id:
RCV000629529
dbSNP Id:
rs563294364
ExAC:
7:769382 C / T
gnomAD v2:
7-769382-C-T
gnomAD v3:
7-729745-C-T
gnomAD v4:
7-729745-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.729745C>T , CM000669.2:g.729745C>T | GRCh38 |
| NC_000007.13:g.769382C>T , CM000669.1:g.769382C>T | GRCh37 |
| NC_000007.12:g.735908C>T | NCBI36 |
| NG_033137.1:g.8045C>T | |
| NG_042811.1:g.2932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.678C>T MANE Select | ENSP00000297440.6:p.Ala226= | |
| ENST00000297440.10:c.678C>T | ENSP00000297440.6:p.Ala226= | |
| ENST00000437419.5:c.97+2430C>T | ||
| ENST00000438961.1:n.147C>T | ||
| ENST00000440747.5:c.82C>T | ||
| NM_017802.3:c.678C>T | NP_060272.3:p.Ala226= | |
| NR_075098.1:n.636C>T | ||
| XM_024446813.1:c.678C>T | XP_024302581.1:p.Ala226= | |
| XM_024446814.1:c.72C>T | XP_024302582.1:p.Ala24= | |
| NM_017802.4:c.678C>T MANE Select | NP_060272.3:p.Ala226= | |
| NR_075098.2:n.638C>T |