Linked Data
dbSNP Id:
rs775559966
ExAC:
15:74631979 G / A
gnomAD v2:
15-74631979-G-A
gnomAD v4:
15-74339638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339638G>A , CM000677.2:g.74339638G>A | GRCh38 |
| NC_000015.9:g.74631979G>A , CM000677.1:g.74631979G>A | GRCh37 |
| NC_000015.8:g.72419032G>A | NCBI36 |
| NG_007973.1:g.33104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1106C>T MANE Select | ENSP00000268053.6:p.Thr369Met | |
| ENST00000268053.10:c.1106C>T | ENSP00000268053.6:p.Thr369Met | |
| ENST00000358632.8:c.632C>T | ENSP00000351455.4:p.Thr211Met | |
| ENST00000435365.5:c.1106C>T | ENSP00000391081.1:p.Thr369Met | |
| ENST00000566674.5:c.632C>T | ENSP00000456941.1:p.Thr211Met | |
| NM_000781.2:c.1106C>T | NP_000772.2:p.Thr369Met | |
| NM_001099773.1:c.632C>T | NP_001093243.1:p.Thr211Met | |
| NM_000781.3:c.1106C>T MANE Select | NP_000772.2:p.Thr369Met | |
| NM_001099773.2:c.632C>T | NP_001093243.1:p.Thr211Met |