Linked Data
ClinVar Variation Id:
919402
dbSNP Id:
rs753735368
ExAC:
7:150644805 G / A
gnomAD v2:
7-150644805-G-A
gnomAD v3:
7-150947717-G-A
gnomAD v4:
7-150947717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947717G>A , CM000669.2:g.150947717G>A | GRCh38 |
| NC_000007.13:g.150644805G>A , CM000669.1:g.150644805G>A | GRCh37 |
| NC_000007.12:g.150275738G>A | NCBI36 |
| NG_008916.1:g.35210C>T , LRG_288:g.35210C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3687C>T | ||
| ENST00000262186.10:c.2854C>T MANE Select | ENSP00000262186.5:p.Pro952Ser | |
| ENST00000330883.9:c.1834C>T | ENSP00000328531.4:p.Pro612Ser | |
| ENST00000262186.9:c.2854C>T | ENSP00000262186.5:p.Pro952Ser | |
| ENST00000330883.8:c.1834C>T | ENSP00000328531.4:p.Pro612Ser | |
| NM_000238.3:c.2854C>T , LRG_288t1:c.2854C>T | NP_000229.1:p.Pro952Ser | |
| NM_172057.2:c.1834C>T , LRG_288t3:c.1834C>T | NP_742054.1:p.Pro612Ser | |
| XM_011516185.1:c.2554C>T | XP_011514487.1:p.Pro852Ser | |
| XM_011516186.1:c.2693-26C>T | XP_011514488.1:n.2693-26C>T | |
| XM_011516185.2:c.2554C>T | XP_011514487.1:p.Pro852Ser | |
| XM_011516186.3:c.2693-26C>T | XP_011514488.1:n.2693-26C>T | |
| XM_017012195.1:c.2704C>T | XP_016867684.1:p.Pro902Ser | |
| XM_017012196.1:c.2677C>T | XP_016867685.1:p.Pro893Ser | |
| NM_000238.4:c.2854C>T MANE Select | NP_000229.1:p.Pro952Ser | |
| NM_172057.3:c.1834C>T | NP_742054.1:p.Pro612Ser |