Linked Data
ClinVar Variation Id:
300045
dbSNP Id:
rs374791168
ExAC:
10:50678412 T / C
gnomAD v2:
10-50678412-T-C
gnomAD v3:
10-49470366-T-C
gnomAD v4:
10-49470366-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470366T>C , CM000672.2:g.49470366T>C | GRCh38 |
| NC_000010.10:g.50678412T>C , CM000672.1:g.50678412T>C | GRCh37 |
| NC_000010.9:g.50348418T>C | NCBI36 |
| NG_009442.1:g.73736A>G , LRG_465:g.73736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3594A>G MANE Select | ENSP00000348089.5:p.Lys1198= | |
| ENST00000679552.1:n.665A>G | ||
| ENST00000679871.1:n.740A>G | ||
| ENST00000679974.1:n.643A>G | ||
| ENST00000681632.1:n.4997A>G | ||
| ENST00000681659.1:c.3435A>G | ENSP00000505631.1:p.Lys1145= | |
| ENST00000355832.9:c.3594A>G | ENSP00000348089.5:p.Lys1198= | |
| ENST00000623073.3:c.*1890A>G | ENSP00000485650.1:n.*1890A>G | |
| ENST00000623115.3:c.1704A>G | ENSP00000485321.1:p.Lys568= | |
| ENST00000624341.3:c.1426A>G | ||
| NM_000124.3:c.3594A>G | NP_000115.1:p.Lys1198= | |
| XR_945953.1:n.243-1199T>C | ||
| NM_001346440.1:c.3594A>G | NP_001333369.1:p.Lys1198= | |
| NM_000124.4:c.3594A>G MANE Select | NP_000115.1:p.Lys1198= | |
| NM_001346440.2:c.3594A>G | NP_001333369.1:p.Lys1198= |