Linked Data
ClinVar Variation Id:
454868
ClinVar RCV Id:
RCV000542246
dbSNP Id:
rs569560572
ExAC:
7:769421 C / T
gnomAD v2:
7-769421-C-T
gnomAD v3:
7-729784-C-T
gnomAD v4:
7-729784-C-T
COSMIC:
COSM3882497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.729784C>T , CM000669.2:g.729784C>T | GRCh38 |
| NC_000007.13:g.769421C>T , CM000669.1:g.769421C>T | GRCh37 |
| NC_000007.12:g.735947C>T | NCBI36 |
| NG_033137.1:g.8084C>T | |
| NG_042811.1:g.2893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.717C>T MANE Select | ENSP00000297440.6:p.Asn239= | |
| ENST00000297440.10:c.717C>T | ENSP00000297440.6:p.Asn239= | |
| ENST00000437419.5:c.97+2469C>T | ||
| ENST00000438961.1:n.186C>T | ||
| ENST00000440747.5:c.121C>T | ||
| NM_017802.3:c.717C>T | NP_060272.3:p.Asn239= | |
| NR_075098.1:n.675C>T | ||
| XM_024446813.1:c.717C>T | XP_024302581.1:p.Asn239= | |
| XM_024446814.1:c.111C>T | XP_024302582.1:p.Asn37= | |
| NM_017802.4:c.717C>T MANE Select | NP_060272.3:p.Asn239= | |
| NR_075098.2:n.677C>T |