Linked Data
ClinVar Variation Id:
378112
dbSNP Id:
rs913435613
gnomAD v2:
10-82036137-G-A
gnomAD v4:
10-80276381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276381G>A , CM000672.2:g.80276381G>A | GRCh38 |
| NC_000010.10:g.82036137G>A , CM000672.1:g.82036137G>A | GRCh37 |
| NC_000010.9:g.82026117G>A | NCBI36 |
| NG_008083.1:g.18298C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.763C>T MANE Select | ENSP00000361287.3:p.Pro255Ser | |
| ENST00000372213.7:c.763C>T | ENSP00000361287.3:p.Pro255Ser | |
| NM_000429.2:c.763C>T | NP_000420.1:p.Pro255Ser | |
| XM_005269842.3:c.763C>T | XP_005269899.1:p.Pro255Ser | |
| XM_005269843.3:c.640C>T | XP_005269900.1:p.Pro214Ser | |
| NM_000429.3:c.763C>T MANE Select | NP_000420.1:p.Pro255Ser |