Linked Data
ClinVar Variation Id:
2048093
ClinVar RCV Id:
RCV002918537
dbSNP Id:
rs768081120
ExAC:
7:150655342 G / A
gnomAD v2:
7-150655342-G-A
gnomAD v4:
7-150958254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958254G>A , CM000669.2:g.150958254G>A | GRCh38 |
| NC_000007.13:g.150655342G>A , CM000669.1:g.150655342G>A | GRCh37 |
| NC_000007.12:g.150286275G>A | NCBI36 |
| NG_008916.1:g.24673C>T , LRG_288:g.24673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1554C>T | ||
| ENST00000262186.10:c.721C>T MANE Select | ENSP00000262186.5:p.Pro241Ser | |
| ENST00000262186.9:c.721C>T | ENSP00000262186.5:p.Pro241Ser | |
| ENST00000430723.4:c.373C>T | ENSP00000387657.4:p.Pro125Ser | |
| ENST00000532957.5:n.944C>T | ||
| NM_000238.3:c.721C>T , LRG_288t1:c.721C>T | NP_000229.1:p.Pro241Ser | |
| NM_172056.2:c.721C>T , LRG_288t2:c.721C>T | NP_742053.1:p.Pro241Ser | |
| XM_011516185.1:c.421C>T | XP_011514487.1:p.Pro141Ser | |
| XM_011516186.1:c.721C>T | XP_011514488.1:p.Pro241Ser | |
| XM_011516185.2:c.421C>T | XP_011514487.1:p.Pro141Ser | |
| XM_011516186.3:c.721C>T | XP_011514488.1:p.Pro241Ser | |
| XM_017012195.1:c.571C>T | XP_016867684.1:p.Pro191Ser | |
| XM_017012196.1:c.544C>T | XP_016867685.1:p.Pro182Ser | |
| NM_000238.4:c.721C>T MANE Select | NP_000229.1:p.Pro241Ser |