Linked Data
gnomAD v4:
22-36564873-G-A
COSMIC:
COSM4495301
MyVariant Identifiers:
chr22:g.36960920G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564873G>A , CM000684.2:g.36564873G>A | GRCh38 |
| NC_000022.10:g.36960920G>A , CM000684.1:g.36960920G>A | GRCh37 |
| NC_000022.9:g.35290866G>A | NCBI36 |
| NG_031861.1:g.142771C>T | |
| NG_031861.2:g.142986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.450C>T MANE Select | ENSP00000300105.6:p.Ile150= | |
| ENST00000300105.6:c.450C>T | ENSP00000300105.6:p.Ile150= | |
| NM_006078.3:c.450C>T | NP_006069.1:p.Ile150= | |
| NM_006078.4:c.450C>T | NP_006069.1:p.Ile150= | |
| XM_017028531.2:c.192C>T | XP_016884020.1:p.Ile64= | |
| NM_001379051.1:c.381C>T | NP_001365980.1:p.Ile127= | |
| NM_006078.5:c.450C>T MANE Select | NP_006069.1:p.Ile150= | |
| NR_166440.1:n.1816C>T |