Linked Data
ClinVar Variation Id:
595008
ClinVar RCV Id:
RCV000730432
dbSNP Id:
rs1364757729
gnomAD v2:
9-104187172-C-A
gnomAD v3:
9-101424890-C-A
gnomAD v4:
9-101424890-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424890C>A , CM000671.2:g.101424890C>A | GRCh38 |
| NC_000009.11:g.104187172C>A , CM000671.1:g.104187172C>A | GRCh37 |
| NC_000009.10:g.103226993C>A | NCBI36 |
| NG_012387.1:g.15891G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.952G>T MANE Select | ENSP00000497767.1:p.Ala318Ser | |
| ENST00000648064.1:c.952G>T | ENSP00000497990.1:p.Ala318Ser | |
| ENST00000648758.1:c.952G>T | ENSP00000497731.1:p.Ala318Ser | |
| ENST00000649902.1:c.952G>T | ENSP00000497216.1:p.Ala318Ser | |
| ENST00000374855.8:c.952G>T | ENSP00000363988.4:p.Ala318Ser | |
| ENST00000616752.1:c.915G>T | ENSP00000481363.1:p.Arg305Ser | |
| NM_000035.3:c.952G>T | NP_000026.2:p.Ala318Ser | |
| NM_000035.4:c.952G>T MANE Select | NP_000026.2:p.Ala318Ser |