Linked Data
dbSNP Id:
rs776556356
ExAC:
4:100521873 C / A
gnomAD v2:
4-100521873-C-A
gnomAD v4:
4-99600716-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99600716C>A , CM000666.2:g.99600716C>A | GRCh38 |
| NC_000004.11:g.100521873C>A , CM000666.1:g.100521873C>A | GRCh37 |
| NC_000004.10:g.100740896C>A | NCBI36 |
| NG_011469.1:g.41634C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.1219C>A MANE Select | ENSP00000265517.5:p.Leu407Ile | |
| ENST00000457717.6:c.1219C>A | ENSP00000400821.1:p.Leu407Ile | |
| ENST00000511045.6:c.970C>A | ENSP00000427679.2:p.Leu324Ile | |
| ENST00000265517.9:c.1219C>A | ENSP00000265517.5:p.Leu407Ile | |
| ENST00000457717.5:c.1219C>A | ENSP00000400821.1:p.Leu407Ile | |
| ENST00000511045.5:c.1300C>A | ENSP00000427679.1:p.Leu434Ile | |
| ENST00000619629.1:c.1219C>A | ENSP00000482850.1:p.Leu407Ile | |
| NM_000253.3:c.1219C>A | NP_000244.2:p.Leu407Ile | |
| NM_001300785.1:c.1300C>A | NP_001287714.1:p.Leu434Ile | |
| NM_000253.4:c.1219C>A | NP_000244.2:p.Leu407Ile | |
| NM_001300785.2:c.970C>A | NP_001287714.2:p.Leu324Ile | |
| NM_001386140.1:c.1219C>A MANE Select | NP_001373069.1:p.Leu407Ile |