Linked Data
dbSNP Id:
rs1391591390
gnomAD v2:
15-58302908-G-C
gnomAD v3:
15-58010710-G-C
gnomAD v4:
15-58010710-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010710G>C , CM000677.2:g.58010710G>C | GRCh38 |
| NC_000015.9:g.58302908G>C , CM000677.1:g.58302908G>C | GRCh37 |
| NC_000015.8:g.56090200G>C | NCBI36 |
| NG_012259.1:g.59999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.432C>G MANE Select | ENSP00000249750.4:p.Ile144Met | |
| ENST00000249750.8:c.432C>G | ENSP00000249750.4:p.Ile144Met | |
| ENST00000347587.7:c.432C>G | ENSP00000309623.3:p.Ile144Met | |
| ENST00000430119.6:c.*406C>G | ENSP00000416754.2:n.*406C>G | |
| ENST00000537372.5:c.369C>G | ENSP00000438296.1:p.Ile123Met | |
| ENST00000558231.5:c.345C>G | ENSP00000453600.1:p.Ile115Met | |
| ENST00000559266.5:n.318+3148C>G | ||
| ENST00000559517.5:c.144C>G | ENSP00000453408.1:p.Ile48Met | |
| ENST00000561070.5:c.144C>G | ENSP00000452850.1:p.Ile48Met | |
| NM_001206897.1:c.369C>G | NP_001193826.1:p.Ile123Met | |
| NM_003888.3:c.432C>G | NP_003879.2:p.Ile144Met | |
| NM_170696.2:c.432C>G | NP_733797.1:p.Ile144Met | |
| NM_170697.2:c.144C>G | NP_733798.1:p.Ile48Met | |
| XM_024450095.1:c.432C>G | XP_024305863.1:p.Ile144Met | |
| NM_003888.4:c.432C>G MANE Select | NP_003879.2:p.Ile144Met | |
| NM_170696.3:c.432C>G | NP_733797.1:p.Ile144Met | |
| NM_170697.3:c.144C>G | NP_733798.1:p.Ile48Met | |
| NM_001206897.2:c.369C>G | NP_001193826.1:p.Ile123Met |