MyVariant.info:
GRCh38
chr19:g.54123836C>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001409 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00015447 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123836C>T , CM000681.2:g.54123836C>T | GRCh38 |
| NC_000019.8:g.59319027C>T | NCBI36 |
| NG_009759.1:g.13426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.615C>T MANE Select | ENSP00000324122.4:p.Tyr205= | |
| ENST00000321030.8:c.615C>T | ENSP00000324122.4:p.Tyr205= | |
| ENST00000391755.1:c.615C>T | ENSP00000375635.1:p.Tyr205= | |
| ENST00000419967.5:c.615C>T | ENSP00000405166.2:p.Tyr205= | |
| ENST00000445124.5:c.615C>T | ENSP00000408980.1:p.Tyr205= | |
| ENST00000445811.5:c.615C>T | ENSP00000395894.1:p.Tyr205= | |
| ENST00000447810.5:c.615C>T | ENSP00000395089.1:p.Tyr205= | |
| ENST00000466404.5:n.485C>T | ||
| ENST00000498612.1:n.398C>T | ||
| NM_015629.3:c.615C>T | NP_056444.3:p.Tyr205= | |
| XM_006723137.2:c.615C>T | XP_006723200.1:p.Tyr205= | |
| XR_935789.1:n.664C>T | ||
| XM_006723137.4:c.615C>T | XP_006723200.1:p.Tyr205= | |
| XR_002958293.1:n.745C>T | ||
| XR_935789.3:n.676C>T | ||
| NM_015629.4:c.615C>T MANE Select | NP_056444.3:p.Tyr205= |