Linked Data
ClinVar Variation Id:
6141
ClinVar RCV Id:
RCV000006515
dbSNP Id:
rs121908598
PubMed:
PMID:12525542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26458074G>C , CM000664.2:g.26458074G>C | GRCh38 |
| NC_000002.11:g.26680942G>C , CM000664.1:g.26680942G>C | GRCh37 |
| NC_000002.10:g.26534446G>C | NCBI36 |
| NG_009937.1:g.105625C>G | |
| NG_042824.1:g.61163G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.*164C>G MANE Select | ENSP00000272371.2:n.*164C>G | |
| ENST00000339598.8:c.3659C>G MANE Plus Clinical | ENSP00000344521.3:p.Pro1220Arg | |
| ENST00000402415.8:c.*164C>G | ENSP00000383906.4:n.*164C>G | |
| ENST00000272371.6:c.*164C>G | ENSP00000272371.2:n.*164C>G | |
| ENST00000338581.10:c.*164C>G | ENSP00000345137.6:n.*164C>G | |
| ENST00000339598.7:c.3659C>G | ENSP00000344521.3:p.Pro1220Arg | |
| ENST00000402415.7:c.*164C>G | ENSP00000383906.3:n.*164C>G | |
| ENST00000403946.7:c.5960C>G | ENSP00000385255.3:p.Pro1987Arg | |
| NM_001287489.1:c.5960C>G | NP_001274418.1:p.Pro1987Arg | |
| NM_004802.3:c.*164C>G | NP_004793.2:n.*164C>G | |
| NM_194248.2:c.*164C>G | NP_919224.1:n.*164C>G | |
| NM_194322.2:c.*164C>G | NP_919303.1:n.*164C>G | |
| NM_194323.2:c.3659C>G | NP_919304.1:p.Pro1220Arg | |
| XM_005264644.2:c.5945C>G | XP_005264701.1:p.Pro1982Arg | |
| XM_011533185.1:c.6005C>G | XP_011531487.1:p.Pro2002Arg | |
| NM_001287489.2:c.5960C>G | NP_001274418.1:p.Pro1987Arg | |
| NM_004802.4:c.*164C>G | NP_004793.2:n.*164C>G | |
| NM_194248.3:c.*164C>G MANE Select | NP_919224.1:n.*164C>G | |
| NM_194322.3:c.*164C>G | NP_919303.1:n.*164C>G | |
| NM_194323.3:c.3659C>G MANE Plus Clinical | NP_919304.1:p.Pro1220Arg |