gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49637421G>A , CM000678.2:g.49637421G>A | GRCh38 |
| NC_000016.9:g.49671332G>A , CM000678.1:g.49671332G>A | GRCh37 |
| NC_000016.8:g.48228833G>A | NCBI36 |
| NG_032972.1:g.225499C>T | |
| NG_032972.2:g.225499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.1755C>T MANE Select | ENSP00000455588.3:p.Ile585= | |
| ENST00000262383.6:c.1731C>T | ENSP00000262383.2:p.Ile577= | |
| ENST00000535559.5:c.1380C>T | ENSP00000442321.1:p.Ile460= | |
| ENST00000561648.5:c.1731C>T | ENSP00000455426.1:p.Ile577= | |
| ENST00000562520.1:c.1551C>T | ENSP00000457664.1:p.Ile517= | |
| ENST00000562871.5:c.1551C>T | ENSP00000457928.1:p.Ile517= | |
| ENST00000563137.6:c.1551C>T | ENSP00000455588.2:p.Ile517= | |
| ENST00000567169.5:c.1380C>T | ENSP00000455061.1:p.Ile460= | |
| NM_001271620.1:c.1551C>T | NP_001258549.1:p.Ile517= | |
| NM_015069.3:c.1731C>T | NP_055884.2:p.Ile577= | |
| XM_005255856.3:c.1551C>T | XP_005255913.1:p.Ile517= | |
| XM_005255857.3:c.1380C>T | XP_005255914.1:p.Ile460= | |
| XM_006721171.2:c.1776C>T | XP_006721234.1:p.Ile592= | |
| XM_011522962.1:c.1824C>T | XP_011521264.1:p.Ile608= | |
| NM_001271620.2:c.1551C>T | NP_001258549.1:p.Ile517= | |
| NM_001330533.1:c.1380C>T | NP_001317462.1:p.Ile460= | |
| NM_015069.4:c.1731C>T | NP_055884.2:p.Ile577= | |
| XM_005255856.4:c.1551C>T | XP_005255913.1:p.Ile517= | |
| XM_006721171.4:c.1776C>T | XP_006721234.1:p.Ile592= | |
| XM_017023076.2:c.1755C>T | XP_016878565.1:p.Ile585= | |
| XM_017023077.1:c.1551C>T | XP_016878566.1:p.Ile517= | |
| XM_017023078.1:c.1551C>T | XP_016878567.1:p.Ile517= | |
| NM_001330533.2:c.1380C>T | NP_001317462.1:p.Ile460= | |
| NM_001379286.1:c.1755C>T MANE Select | NP_001366215.1:p.Ile585= | |
| NM_015069.5:c.1731C>T | NP_055884.2:p.Ile577= |