Linked Data
ClinVar Variation Id:
364315
ClinVar RCV Id:
RCV000384465
dbSNP Id:
rs747019279
ExAC:
9:104192052 G / A
gnomAD v2:
9-104192052-G-A
gnomAD v3:
9-101429770-G-A
gnomAD v4:
9-101429770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429770G>A , CM000671.2:g.101429770G>A | GRCh38 |
| NC_000009.11:g.104192052G>A , CM000671.1:g.104192052G>A | GRCh37 |
| NC_000009.10:g.103231873G>A | NCBI36 |
| NG_012387.1:g.11011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.309C>T MANE Select | ENSP00000497767.1:p.Ile103= | |
| ENST00000648064.1:c.309C>T | ENSP00000497990.1:p.Ile103= | |
| ENST00000648758.1:c.309C>T | ENSP00000497731.1:p.Ile103= | |
| ENST00000648906.1:n.479C>T | ||
| ENST00000649902.1:c.309C>T | ENSP00000497216.1:p.Ile103= | |
| ENST00000650613.1:n.385C>T | ||
| ENST00000374855.8:c.309C>T | ENSP00000363988.4:p.Ile103= | |
| ENST00000468981.3:n.67+39C>T | ||
| ENST00000616752.1:c.309C>T | ENSP00000481363.1:p.Ile103= | |
| NM_000035.3:c.309C>T | NP_000026.2:p.Ile103= | |
| NM_000035.4:c.309C>T MANE Select | NP_000026.2:p.Ile103= |