Linked Data
ClinVar Variation Id:
1534780
ClinVar RCV Id:
RCV002076921
dbSNP Id:
rs2116932647
gnomAD v4:
7-150947721-G-A
MyVariant Identifiers:
chr7:g.150644809G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947721G>A , CM000669.2:g.150947721G>A | GRCh38 |
| NC_000007.13:g.150644809G>A , CM000669.1:g.150644809G>A | GRCh37 |
| NC_000007.12:g.150275742G>A | NCBI36 |
| NG_008916.1:g.35206C>T , LRG_288:g.35206C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3683C>T | ||
| ENST00000262186.10:c.2850C>T MANE Select | ENSP00000262186.5:p.Ser950= | |
| ENST00000330883.9:c.1830C>T | ENSP00000328531.4:p.Ser610= | |
| ENST00000262186.9:c.2850C>T | ENSP00000262186.5:p.Ser950= | |
| ENST00000330883.8:c.1830C>T | ENSP00000328531.4:p.Ser610= | |
| NM_000238.3:c.2850C>T , LRG_288t1:c.2850C>T | NP_000229.1:p.Ser950= | |
| NM_172057.2:c.1830C>T , LRG_288t3:c.1830C>T | NP_742054.1:p.Ser610= | |
| XM_011516185.1:c.2550C>T | XP_011514487.1:p.Ser850= | |
| XM_011516186.1:c.2693-30C>T | XP_011514488.1:n.2693-30C>T | |
| XM_011516185.2:c.2550C>T | XP_011514487.1:p.Ser850= | |
| XM_011516186.3:c.2693-30C>T | XP_011514488.1:n.2693-30C>T | |
| XM_017012195.1:c.2700C>T | XP_016867684.1:p.Ser900= | |
| XM_017012196.1:c.2673C>T | XP_016867685.1:p.Ser891= | |
| NM_000238.4:c.2850C>T MANE Select | NP_000229.1:p.Ser950= | |
| NM_172057.3:c.1830C>T | NP_742054.1:p.Ser610= |