Linked Data
dbSNP Id:
rs548476435
ExAC:
19:51363354 A / T
gnomAD v2:
19-51363354-A-T
gnomAD v4:
19-50860098-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860098A>T , CM000681.2:g.50860098A>T | GRCh38 |
| NC_000019.9:g.51363354A>T , CM000681.1:g.51363354A>T | GRCh37 |
| NC_000019.8:g.56055166A>T | NCBI36 |
| NG_011653.1:g.10184A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.757A>T MANE Select | ENSP00000314151.1:p.Ile253Phe | |
| ENST00000326003.6:c.757A>T | ENSP00000314151.1:p.Ile253Phe | |
| ENST00000360617.7:c.1199A>T | ENSP00000353829.2:n.1199A>T | |
| ENST00000422986.6:c.*413A>T | ENSP00000393628.2:n.*413A>T | |
| ENST00000595392.5:c.*258A>T | ENSP00000468912.1:n.*258A>T | |
| ENST00000595952.5:c.628A>T | ENSP00000471155.1:p.Ile210Phe | |
| ENST00000596333.1:n.935A>T | ||
| ENST00000598145.1:c.759A>T | ||
| ENST00000601349.5:n.2036A>T | ||
| ENST00000601812.1:n.1189A>T | ||
| ENST00000617027.4:c.634A>T | ENSP00000483513.1:p.Ile212Phe | |
| NM_001030047.1:c.*482A>T | NP_001025218.1:n.*482A>T | |
| NM_001030048.1:c.628A>T | NP_001025219.1:p.Ile210Phe | |
| NM_001648.2:c.757A>T MANE Select | NP_001639.1:p.Ile253Phe | |
| XM_011526923.1:c.775A>T | XP_011525225.1:p.Ile259Phe | |
| XR_935817.1:n.1324+844A>T |