Linked Data
dbSNP Id:
rs1850772409
gnomAD v3:
10-49471120-T-A
gnomAD v4:
10-49471120-T-A
MyVariant Identifiers:
chr10:g.50679166T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471120T>A , CM000672.2:g.49471120T>A | GRCh38 |
| NC_000010.10:g.50679166T>A , CM000672.1:g.50679166T>A | GRCh37 |
| NC_000010.9:g.50349172T>A | NCBI36 |
| NG_009442.1:g.72982A>T , LRG_465:g.72982A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2925A>T MANE Select | ENSP00000348089.5:p.Arg975= | |
| ENST00000679552.1:n.142-231A>T | ||
| ENST00000679871.1:n.71A>T | ||
| ENST00000679974.1:n.120-231A>T | ||
| ENST00000681632.1:n.4328A>T | ||
| ENST00000681659.1:c.2766A>T | ENSP00000505631.1:p.Arg922= | |
| ENST00000355832.9:c.2925A>T | ENSP00000348089.5:p.Arg975= | |
| ENST00000623073.3:c.*1221A>T | ENSP00000485650.1:n.*1221A>T | |
| ENST00000623115.3:c.1035A>T | ENSP00000485321.1:p.Arg345= | |
| ENST00000624341.3:c.757A>T | ||
| NM_000124.3:c.2925A>T | NP_000115.1:p.Arg975= | |
| XR_945953.1:n.243-445T>A | ||
| NM_001346440.1:c.2925A>T | NP_001333369.1:p.Arg975= | |
| NM_000124.4:c.2925A>T MANE Select | NP_000115.1:p.Arg975= | |
| NM_001346440.2:c.2925A>T | NP_001333369.1:p.Arg975= |