Linked Data
ClinVar Variation Id:
340958
dbSNP Id:
rs142897070
ExAC:
22:25603146 G / T
gnomAD v2:
22-25603146-G-T
gnomAD v3:
22-25207179-G-T
gnomAD v4:
22-25207179-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207179G>T , CM000684.2:g.25207179G>T | GRCh38 |
| NC_000022.10:g.25603146G>T , CM000684.1:g.25603146G>T | GRCh37 |
| NC_000022.9:g.23933146G>T | NCBI36 |
| NG_009828.1:g.12322G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215855.7:c.603G>T MANE Select | ENSP00000215855.2:p.Lys201Asn | |
| ENST00000215855.6:c.603G>T | ENSP00000215855.2:p.Lys201Asn | |
| ENST00000404334.1:c.*118G>T | ENSP00000386123.1:n.*118G>T | |
| NM_004076.4:c.603G>T | NP_004067.1:p.Lys201Asn | |
| XM_011529902.1:c.771G>T | XP_011528204.1:p.Lys257Asn | |
| XM_011529902.3:c.771G>T | XP_011528204.1:p.Lys257Asn | |
| XM_017028599.2:c.*118G>T | XP_016884088.1:n.*118G>T | |
| NM_004076.5:c.603G>T MANE Select | NP_004067.1:p.Lys201Asn |