Linked Data
dbSNP Id:
rs199876142
ExAC:
20:368789 C / A
gnomAD v2:
20-368789-C-A
gnomAD v3:
20-388145-C-A
gnomAD v4:
20-388145-C-A
COSMIC:
COSM1026632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.388145C>A , CM000682.2:g.388145C>A | GRCh38 |
| NC_000020.10:g.368789C>A , CM000682.1:g.368789C>A | GRCh37 |
| NC_000020.9:g.316789C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217233.9:c.135C>A MANE Select | ENSP00000217233.3:p.Pro45= | |
| ENST00000217233.8:c.135C>A | ENSP00000217233.3:p.Pro45= | |
| ENST00000217233.7:c.135C>A | ENSP00000217233.3:p.Pro45= | |
| ENST00000422053.3:c.216C>A | ENSP00000415416.2:p.Pro72= | |
| ENST00000449710.5:c.135C>A | ENSP00000391873.1:p.Pro45= | |
| ENST00000615226.4:c.135C>A | ENSP00000478194.1:p.Pro45= | |
| NM_001301188.1:c.135C>A | NP_001288117.1:p.Pro45= | |
| NM_001301190.1:c.135C>A | NP_001288119.1:p.Pro45= | |
| NM_001301193.1:c.135C>A | NP_001288122.1:p.Pro45= | |
| NM_001301196.1:c.135C>A | NP_001288125.1:p.Pro45= | |
| NM_001301201.1:c.216C>A | NP_001288130.1:p.Pro72= | |
| NM_021158.4:c.135C>A | NP_066981.2:p.Pro45= | |
| XM_017027989.2:c.216C>A | XP_016883478.1:p.Pro72= | |
| NM_021158.5:c.135C>A MANE Select | NP_066981.2:p.Pro45= |