Linked Data
dbSNP Id:
rs770125793
ExAC:
1:155260425 C / A
gnomAD v2:
1-155260425-C-A
gnomAD v4:
1-155290634-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290634C>A , CM000663.2:g.155290634C>A | GRCh38 |
| NC_000001.10:g.155260425C>A , CM000663.1:g.155260425C>A | GRCh37 |
| NC_000001.9:g.153527049C>A | NCBI36 |
| NG_011677.1:g.15801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1663G>T MANE Select | ENSP00000339933.4:p.Val555Leu | |
| ENST00000342741.4:c.1663G>T | ENSP00000339933.4:p.Val555Leu | |
| ENST00000392414.7:c.1570G>T | ENSP00000376214.3:p.Val524Leu | |
| NM_000298.5:c.1663G>T | NP_000289.1:p.Val555Leu | |
| NM_181871.3:c.1570G>T | NP_870986.1:p.Val524Leu | |
| XM_005245266.3:c.1822G>T | XP_005245323.1:p.Val608Leu | |
| XM_006711386.2:c.1471G>T | XP_006711449.1:p.Val491Leu | |
| XM_011509640.1:c.1471G>T | XP_011507942.1:p.Val491Leu | |
| NM_000298.6:c.1663G>T MANE Select | NP_000289.1:p.Val555Leu | |
| XM_006711386.4:c.1471G>T | XP_006711449.1:p.Val491Leu | |
| XM_011509640.3:c.1471G>T | XP_011507942.1:p.Val491Leu | |
| NM_181871.4:c.1570G>T | NP_870986.1:p.Val524Leu |