Linked Data
ClinVar Variation Id:
96026
dbSNP Id:
rs371522435
ExAC:
10:73558330 C / T
gnomAD v2:
10-73558330-C-T
gnomAD v3:
10-71798573-C-T
gnomAD v4:
10-71798573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798573C>T , CM000672.2:g.71798573C>T | GRCh38 |
| NC_000010.10:g.73558330C>T , CM000672.1:g.73558330C>T | GRCh37 |
| NC_000010.9:g.73228336C>T | NCBI36 |
| NG_008835.1:g.406627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7049C>T MANE Select | ENSP00000224721.9:p.Ser2350Leu | |
| ENST00000642965.1:c.982C>T | ENSP00000495222.1:n.982C>T | |
| ENST00000647092.1:c.646C>T | ENSP00000495176.1:n.646C>T | |
| ENST00000224721.10:c.7064C>T | ENSP00000224721.8:p.Ser2355Leu | |
| ENST00000398788.4:c.329C>T | ENSP00000381768.3:p.Ser110Leu | |
| ENST00000475158.1:n.585C>T | ||
| ENST00000619887.4:c.329C>T | ENSP00000478374.1:p.Ser110Leu | |
| ENST00000622827.4:c.7049C>T | ENSP00000483211.1:p.Ser2350Leu | |
| NM_001171933.1:c.329C>T | NP_001165404.1:p.Ser110Leu | |
| NM_001171934.1:c.329C>T | NP_001165405.1:p.Ser110Leu | |
| NM_022124.5:c.7049C>T | NP_071407.4:p.Ser2350Leu | |
| XM_006717940.2:c.7244C>T | XP_006718003.1:p.Ser2415Leu | |
| XM_006717942.2:c.7178C>T | XP_006718005.1:p.Ser2393Leu | |
| XM_011540039.1:c.7241C>T | XP_011538341.1:p.Ser2414Leu | |
| XM_011540040.1:c.7238C>T | XP_011538342.1:p.Ser2413Leu | |
| XM_011540041.1:c.7184C>T | XP_011538343.1:p.Ser2395Leu | |
| XM_011540042.1:c.7154C>T | XP_011538344.1:p.Ser2385Leu | |
| XM_011540043.1:c.7244C>T | XP_011538345.1:p.Ser2415Leu | |
| XM_011540044.1:c.7109C>T | XP_011538346.1:p.Ser2370Leu | |
| XM_011540045.1:c.7244C>T | XP_011538347.1:p.Ser2415Leu | |
| XM_011540046.1:c.6704C>T | XP_011538348.1:p.Ser2235Leu | |
| XM_011540047.1:c.6062C>T | XP_011538349.1:p.Ser2021Leu | |
| XM_011540052.1:c.3572C>T | XP_011538354.1:p.Ser1191Leu | |
| NM_022124.6:c.7049C>T MANE Select | NP_071407.4:p.Ser2350Leu |