Linked Data
ClinVar Variation Id:
932276
ClinVar RCV Id:
RCV001200013
dbSNP Id:
rs1592954413
ERepo:
CA16020832/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855183T>G , CM000674.2:g.102855183T>G | GRCh38 |
| NC_000012.11:g.103248961T>G , CM000674.1:g.103248961T>G | GRCh37 |
| NC_000012.10:g.101773091T>G | NCBI36 |
| NG_008690.1:g.67420A>C | |
| NG_008690.2:g.108228A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.659A>C MANE Select | ENSP00000448059.1:p.His220Pro | |
| ENST00000307000.7:c.644A>C | ENSP00000303500.2:p.His215Pro | |
| ENST00000549111.5:n.755A>C | ||
| ENST00000553106.5:c.659A>C | ENSP00000448059.1:p.His220Pro | |
| NM_000277.1:c.659A>C | NP_000268.1:p.His220Pro | |
| XM_011538422.1:c.659A>C | XP_011536724.1:p.His220Pro | |
| NM_000277.2:c.659A>C | NP_000268.1:p.His220Pro | |
| NM_001354304.1:c.659A>C | NP_001341233.1:p.His220Pro | |
| XM_017019370.2:c.659A>C | XP_016874859.1:p.His220Pro | |
| NM_000277.3:c.659A>C MANE Select | NP_000268.1:p.His220Pro | |
| NM_001354304.2:c.659A>C | NP_001341233.1:p.His220Pro |