Linked Data
ClinVar Variation Id:
300058
dbSNP Id:
rs777251839
ExAC:
10:50680944 T / A
gnomAD v2:
10-50680944-T-A
gnomAD v3:
10-49472898-T-A
gnomAD v4:
10-49472898-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49472898T>A , CM000672.2:g.49472898T>A | GRCh38 |
| NC_000010.10:g.50680944T>A , CM000672.1:g.50680944T>A | GRCh37 |
| NC_000010.9:g.50350950T>A | NCBI36 |
| NG_009442.1:g.71204A>T , LRG_465:g.71204A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2829+11A>T MANE Select | ENSP00000348089.5:n.2829+11A>T | |
| ENST00000681632.1:n.3805A>T | ||
| ENST00000681659.1:c.2670+11A>T | ENSP00000505631.1:n.2670+11A>T | |
| ENST00000355832.9:c.2829+11A>T | ENSP00000348089.5:n.2829+11A>T | |
| ENST00000623073.3:c.*1125+11A>T | ENSP00000485650.1:n.*1125+11A>T | |
| ENST00000623115.3:c.939+11A>T | ENSP00000485321.1:n.939+11A>T | |
| ENST00000624341.3:c.661+11A>T | ||
| NM_000124.3:c.2829+11A>T | NP_000115.1:n.2829+11A>T | |
| XR_945953.1:n.885T>A | ||
| NM_001346440.1:c.2829+11A>T | NP_001333369.1:n.2829+11A>T | |
| NM_000124.4:c.2829+11A>T MANE Select | NP_000115.1:n.2829+11A>T | |
| NM_001346440.2:c.2829+11A>T | NP_001333369.1:n.2829+11A>T |