Linked Data
ClinVar Variation Id:
427035
ClinVar RCV Id:
RCV000489482
dbSNP Id:
rs149182247
ExAC:
7:31016076 C / T
gnomAD v2:
7-31016076-C-T
gnomAD v4:
7-30976461-C-T
COSMIC:
COSM1698486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30976461C>T , CM000669.2:g.30976461C>T | GRCh38 |
| NC_000007.13:g.31016076C>T , CM000669.1:g.31016076C>T | GRCh37 |
| NC_000007.12:g.30982601C>T | NCBI36 |
| NG_021416.1:g.17441C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326139.7:c.1007C>T MANE Select | ENSP00000320180.2:p.Pro336Leu | |
| ENST00000326139.6:c.1007C>T | ENSP00000320180.2:p.Pro336Leu | |
| ENST00000337750.9:c.*223C>T | ENSP00000338184.4:n.*223C>T | |
| ENST00000396227.6:c.*223C>T | ENSP00000379529.2:n.*223C>T | |
| ENST00000409316.5:c.306C>T | ENSP00000386602.1:p.Pro102= | |
| ENST00000409904.7:c.815C>T | ENSP00000387113.3:p.Pro272Leu | |
| ENST00000461424.5:n.583C>T | ||
| ENST00000463164.1:n.33C>T | ||
| ENST00000611037.1:c.453C>T | ENSP00000480159.1:p.Pro151= | |
| NM_000823.3:c.1007C>T | NP_000814.2:p.Pro336Leu | |
| XM_011515263.1:c.815C>T | XP_011513565.1:p.Pro272Leu | |
| NM_000823.4:c.1007C>T MANE Select | NP_000814.2:p.Pro336Leu |