Linked Data
ClinVar Variation Id:
300022
dbSNP Id:
rs547014227
gnomAD v2:
10-50666180-C-T
gnomAD v3:
10-49458134-C-T
gnomAD v4:
10-49458134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49458134C>T , CM000672.2:g.49458134C>T | GRCh38 |
| NC_000010.10:g.50666180C>T , CM000672.1:g.50666180C>T | GRCh37 |
| NC_000010.9:g.50336186C>T | NCBI36 |
| NG_009442.1:g.85968G>A , LRG_465:g.85968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.*681G>A MANE Select | ENSP00000348089.5:n.*681G>A | |
| ENST00000679552.1:n.3372G>A | ||
| ENST00000679871.1:n.2309G>A | ||
| ENST00000679974.1:n.2212G>A | ||
| ENST00000681632.1:n.6566G>A | ||
| ENST00000681659.1:c.*681G>A | ENSP00000505631.1:n.*681G>A | |
| ENST00000355832.9:c.*681G>A | ENSP00000348089.5:n.*681G>A | |
| ENST00000623073.3:c.*3459G>A | ENSP00000485650.1:n.*3459G>A | |
| ENST00000624341.3:c.2995G>A | ||
| NM_000124.3:c.*681G>A | NP_000115.1:n.*681G>A | |
| XR_945953.1:n.243-13431C>T | ||
| NM_001346440.1:c.*681G>A | NP_001333369.1:n.*681G>A | |
| NM_000124.4:c.*681G>A MANE Select | NP_000115.1:n.*681G>A | |
| NM_001346440.2:c.*681G>A | NP_001333369.1:n.*681G>A |