Linked Data
ClinVar Variation Id:
702239
ClinVar RCV Id:
RCV000871214
dbSNP Id:
rs767997161
ExAC:
10:50679160 G / A
gnomAD v2:
10-50679160-G-A
gnomAD v4:
10-49471114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471114G>A , CM000672.2:g.49471114G>A | GRCh38 |
| NC_000010.10:g.50679160G>A , CM000672.1:g.50679160G>A | GRCh37 |
| NC_000010.9:g.50349166G>A | NCBI36 |
| NG_009442.1:g.72988C>T , LRG_465:g.72988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2931C>T MANE Select | ENSP00000348089.5:p.Ile977= | |
| ENST00000679552.1:n.142-225C>T | ||
| ENST00000679871.1:n.77C>T | ||
| ENST00000679974.1:n.120-225C>T | ||
| ENST00000681632.1:n.4334C>T | ||
| ENST00000681659.1:c.2772C>T | ENSP00000505631.1:p.Ile924= | |
| ENST00000355832.9:c.2931C>T | ENSP00000348089.5:p.Ile977= | |
| ENST00000623073.3:c.*1227C>T | ENSP00000485650.1:n.*1227C>T | |
| ENST00000623115.3:c.1041C>T | ENSP00000485321.1:p.Ile347= | |
| ENST00000624341.3:c.763C>T | ||
| NM_000124.3:c.2931C>T | NP_000115.1:p.Ile977= | |
| XR_945953.1:n.243-451G>A | ||
| NM_001346440.1:c.2931C>T | NP_001333369.1:p.Ile977= | |
| NM_000124.4:c.2931C>T MANE Select | NP_000115.1:p.Ile977= | |
| NM_001346440.2:c.2931C>T | NP_001333369.1:p.Ile977= |