Linked Data
ClinVar Variation Id:
16950
ClinVar RCV Id:
RCV000018462
dbSNP Id:
rs745938679
ExAC:
22:25627592 C / T
gnomAD v2:
22-25627592-C-T
gnomAD v3:
22-25231625-C-T
gnomAD v4:
22-25231625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231625C>T , CM000684.2:g.25231625C>T | GRCh38 |
| NC_000022.10:g.25627592C>T , CM000684.1:g.25627592C>T | GRCh37 |
| NC_000022.9:g.23957592C>T | NCBI36 |
| NG_009827.1:g.16981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.471C>T MANE Select | ENSP00000381273.2:p.Pro157= | |
| ENST00000651629.1:c.471C>T | ENSP00000498905.1:p.Pro157= | |
| ENST00000398215.2:c.471C>T | ENSP00000381273.2:p.Pro157= | |
| NM_000496.2:c.471C>T | NP_000487.1:p.Pro157= | |
| XM_006724141.2:c.471C>T | XP_006724204.1:p.Pro157= | |
| XM_011529900.1:c.471C>T | XP_011528202.1:p.Pro157= | |
| XM_011529901.1:c.471C>T | XP_011528203.1:p.Pro157= | |
| XM_006724141.3:c.471C>T | XP_006724204.1:p.Pro157= | |
| XM_011529900.2:c.471C>T | XP_011528202.1:p.Pro157= | |
| NM_000496.3:c.471C>T MANE Select | NP_000487.1:p.Pro157= |