Linked Data
ClinVar Variation Id:
10322
ClinVar RCV Id:
RCV000011035
dbSNP Id:
rs137852468
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861810C>G , CM000685.2:g.154861810C>G | GRCh38 |
| NC_000023.10:g.154090085C>G , CM000685.1:g.154090085C>G | GRCh37 |
| NC_000023.9:g.153743279C>G | NCBI36 |
| NG_011403.1:g.165914G>C | |
| NG_011403.2:g.165914G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6631G>C MANE Select | ENSP00000353393.4:p.Ala2211Pro | |
| ENST00000644698.1:c.364G>C | ENSP00000495706.1:p.Ala122Pro | |
| ENST00000330287.10:c.226G>C | ENSP00000327895.6:p.Ala76Pro | |
| ENST00000360256.8:c.6631G>C | ENSP00000353393.4:p.Ala2211Pro | |
| NM_000132.3:c.6631G>C | NP_000123.1:p.Ala2211Pro | |
| NM_019863.2:c.226G>C | NP_063916.1:p.Ala76Pro | |
| XM_011531126.1:c.6526G>C | XP_011529428.1:p.Ala2176Pro | |
| NM_000132.4:c.6631G>C MANE Select | NP_000123.1:p.Ala2211Pro | |
| NM_019863.3:c.226G>C | NP_063916.1:p.Ala76Pro |