Linked Data
dbSNP Id:
rs768867472
ExAC:
3:128780748 C / A
gnomAD v2:
3-128780748-C-A
gnomAD v3:
3-129061905-C-A
gnomAD v4:
3-129061905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061905C>A , CM000665.2:g.129061905C>A | GRCh38 |
| NC_000003.11:g.128780748C>A , CM000665.1:g.128780748C>A | GRCh37 |
| NC_000003.10:g.130263438C>A | NCBI36 |
| NG_008715.1:g.6104C>A , LRG_477:g.6104C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.166C>A MANE Select | ENSP00000303942.4:p.Leu56Ile | |
| ENST00000307395.4:c.166C>A | ENSP00000303942.4:p.Leu56Ile | |
| NM_000174.4:c.166C>A , LRG_477t1:c.166C>A | NP_000165.1:p.Leu56Ile | |
| XM_005247374.3:c.166C>A | XP_005247431.1:p.Leu56Ile | |
| XM_011512701.1:c.166C>A | XP_011511003.1:p.Leu56Ile | |
| XM_011512702.1:c.166C>A | XP_011511004.1:p.Leu56Ile | |
| NM_000174.5:c.166C>A MANE Select | NP_000165.1:p.Leu56Ile |