Linked Data
dbSNP Id:
rs1564729682
gnomAD v2:
10-50679137-C-T
gnomAD v4:
10-49471091-C-T
MyVariant Identifiers:
chr10:g.50679137C>T (hg19)
chr10:g.50679137_50679141delinsTTATT (hg19)
chr10:g.49471091C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471091C>T , CM000672.2:g.49471091C>T | GRCh38 |
| NC_000010.10:g.50679137C>T , CM000672.1:g.50679137C>T | GRCh37 |
| NC_000010.9:g.50349143C>T | NCBI36 |
| NG_009442.1:g.73011G>A , LRG_465:g.73011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2954G>A MANE Select | ENSP00000348089.5:p.Arg985Lys | |
| ENST00000679552.1:n.142-202G>A | ||
| ENST00000679871.1:n.100G>A | ||
| ENST00000679974.1:n.120-202G>A | ||
| ENST00000681632.1:n.4357G>A | ||
| ENST00000681659.1:c.2795G>A | ENSP00000505631.1:p.Arg932Lys | |
| ENST00000355832.9:c.2954G>A | ENSP00000348089.5:p.Arg985Lys | |
| ENST00000623073.3:c.*1250G>A | ENSP00000485650.1:n.*1250G>A | |
| ENST00000623115.3:c.1064G>A | ENSP00000485321.1:p.Arg355Lys | |
| ENST00000624341.3:c.786G>A | ||
| NM_000124.3:c.2954G>A | NP_000115.1:p.Arg985Lys | |
| XR_945953.1:n.243-474C>T | ||
| NM_001346440.1:c.2954G>A | NP_001333369.1:p.Arg985Lys | |
| NM_000124.4:c.2954G>A MANE Select | NP_000115.1:p.Arg985Lys | |
| NM_001346440.2:c.2954G>A | NP_001333369.1:p.Arg985Lys |