Linked Data
ClinVar Variation Id:
2815002
ClinVar RCV Id:
RCV003683207
MyVariant Identifiers:
chr10:g.50678466C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470420C>T , CM000672.2:g.49470420C>T | GRCh38 |
| NC_000010.10:g.50678466C>T , CM000672.1:g.50678466C>T | GRCh37 |
| NC_000010.9:g.50348472C>T | NCBI36 |
| NG_009442.1:g.73682G>A , LRG_465:g.73682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3540G>A MANE Select | ENSP00000348089.5:p.Lys1180= | |
| ENST00000679552.1:n.611G>A | ||
| ENST00000679871.1:n.686G>A | ||
| ENST00000679974.1:n.589G>A | ||
| ENST00000681632.1:n.4943G>A | ||
| ENST00000681659.1:c.3381G>A | ENSP00000505631.1:p.Lys1127= | |
| ENST00000355832.9:c.3540G>A | ENSP00000348089.5:p.Lys1180= | |
| ENST00000623073.3:c.*1836G>A | ENSP00000485650.1:n.*1836G>A | |
| ENST00000623115.3:c.1650G>A | ENSP00000485321.1:p.Lys550= | |
| ENST00000624341.3:c.1372G>A | ||
| NM_000124.3:c.3540G>A | NP_000115.1:p.Lys1180= | |
| XR_945953.1:n.243-1145C>T | ||
| NM_001346440.1:c.3540G>A | NP_001333369.1:p.Lys1180= | |
| NM_000124.4:c.3540G>A MANE Select | NP_000115.1:p.Lys1180= | |
| NM_001346440.2:c.3540G>A | NP_001333369.1:p.Lys1180= |