Linked Data
dbSNP Id:
rs374719194
ExAC:
4:68619768 G / A
gnomAD v2:
4-68619768-G-A
gnomAD v4:
4-67754050-G-A
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754050G>A , CM000666.2:g.67754050G>A | GRCh38 |
| NC_000004.11:g.68619768G>A , CM000666.1:g.68619768G>A | GRCh37 |
| NC_000004.10:g.68302363G>A | NCBI36 |
| NG_009293.1:g.7037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.286C>T MANE Select | ENSP00000226413.5:p.Pro96Ser | |
| ENST00000226413.4:c.286C>T | ENSP00000226413.4:p.Pro96Ser | |
| ENST00000420975.2:c.286C>T | ENSP00000397561.2:p.Pro96Ser | |
| NM_000406.2:c.286C>T | NP_000397.1:p.Pro96Ser | |
| NM_001012763.1:c.286C>T | NP_001012781.1:p.Pro96Ser | |
| NM_000406.3:c.286C>T MANE Select | NP_000397.1:p.Pro96Ser | |
| NM_001012763.2:c.286C>T | NP_001012781.1:p.Pro96Ser |