Linked Data
ClinVar Variation Id:
300456
dbSNP Id:
rs886047140
gnomAD v2:
10-73562723-C-T
gnomAD v4:
10-71802966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71802966C>T , CM000672.2:g.71802966C>T | GRCh38 |
| NC_000010.10:g.73562723C>T , CM000672.1:g.73562723C>T | GRCh37 |
| NC_000010.9:g.73232729C>T | NCBI36 |
| NG_008835.1:g.411020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7551C>T MANE Select | ENSP00000224721.9:p.Ser2517= | |
| ENST00000642965.1:c.1484C>T | ENSP00000495222.1:n.1484C>T | |
| ENST00000647092.1:c.1148C>T | ENSP00000495176.1:n.1148C>T | |
| ENST00000224721.10:c.7566C>T | ENSP00000224721.8:p.Ser2522= | |
| ENST00000398788.4:c.831C>T | ENSP00000381768.3:p.Ser277= | |
| ENST00000475158.1:n.1087C>T | ||
| ENST00000619887.4:c.831C>T | ENSP00000478374.1:p.Ser277= | |
| ENST00000622827.4:c.7551C>T | ENSP00000483211.1:p.Ser2517= | |
| NM_001171933.1:c.831C>T | NP_001165404.1:p.Ser277= | |
| NM_001171934.1:c.831C>T | NP_001165405.1:p.Ser277= | |
| NM_022124.5:c.7551C>T | NP_071407.4:p.Ser2517= | |
| XM_006717940.2:c.7746C>T | XP_006718003.1:p.Ser2582= | |
| XM_006717942.2:c.7680C>T | XP_006718005.1:p.Ser2560= | |
| XM_011540039.1:c.7743C>T | XP_011538341.1:p.Ser2581= | |
| XM_011540040.1:c.7740C>T | XP_011538342.1:p.Ser2580= | |
| XM_011540041.1:c.7686C>T | XP_011538343.1:p.Ser2562= | |
| XM_011540042.1:c.7656C>T | XP_011538344.1:p.Ser2552= | |
| XM_011540043.1:c.7746C>T | XP_011538345.1:p.Ser2582= | |
| XM_011540044.1:c.7611C>T | XP_011538346.1:p.Ser2537= | |
| XM_011540045.1:c.7746C>T | XP_011538347.1:p.Ser2582= | |
| XM_011540046.1:c.7206C>T | XP_011538348.1:p.Ser2402= | |
| XM_011540047.1:c.6564C>T | XP_011538349.1:p.Ser2188= | |
| XM_011540052.1:c.4074C>T | XP_011538354.1:p.Ser1358= | |
| NM_022124.6:c.7551C>T MANE Select | NP_071407.4:p.Ser2517= |