Linked Data
ClinVar Variation Id:
2916108
ClinVar RCV Id:
RCV003612416
dbSNP Id:
rs945794813
gnomAD v4:
22-32475004-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475004T>G , CM000684.2:g.32475004T>G | GRCh38 |
| NC_000022.10:g.32870991T>G , CM000684.1:g.32870991T>G | GRCh37 |
| NC_000022.9:g.31200991T>G | NCBI36 |
| NG_016001.1:g.5285T>G | |
| NG_016001.2:g.5285T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.2T>G MANE Select | ENSP00000266087.7:p.Met1Arg | |
| ENST00000266087.11:c.2T>G | ENSP00000266087.7:p.Met1Arg | |
| ENST00000420700.5:c.2T>G | ENSP00000406155.1:p.Met1Arg | |
| ENST00000425028.5:c.2T>G | ENSP00000395823.1:p.Met1Arg | |
| NM_012179.3:c.2T>G | NP_036311.3:p.Met1Arg | |
| XM_011530106.1:c.-172T>G | XP_011528408.1:n.-172T>G | |
| XM_024452207.1:c.-189T>G | XP_024307975.1:n.-189T>G | |
| NM_012179.4:c.2T>G MANE Select | NP_036311.3:p.Met1Arg |