Linked Data
ClinVar Variation Id:
11018
ClinVar RCV Id:
RCV000011765
dbSNP Id:
rs132630325
PubMed:
PMID:18469813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100406586G>C , CM000685.2:g.100406586G>C | GRCh38 |
| NC_000023.10:g.99661584G>C , CM000685.1:g.99661584G>C | GRCh37 |
| NC_000023.9:g.99548240G>C | NCBI36 |
| NG_021319.1:g.8688C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255531.8:c.2012C>G | ENSP00000255531.7:p.Ser671Ter | |
| ENST00000373034.8:c.2012C>G MANE Select | ENSP00000362125.4:p.Ser671Ter | |
| ENST00000420881.6:c.2012C>G | ENSP00000400327.2:p.Ser671Ter | |
| NM_001105243.1:c.2012C>G | NP_001098713.1:p.Ser671Ter | |
| NM_001184880.1:c.2012C>G | NP_001171809.1:p.Ser671Ter | |
| NM_020766.2:c.2012C>G | NP_065817.2:p.Ser671Ter | |
| XM_011530997.1:c.2012C>G | XP_011529299.1:p.Ser671Ter | |
| XM_011530997.2:c.2012C>G | XP_011529299.1:p.Ser671Ter | |
| NM_001105243.2:c.2012C>G | NP_001098713.1:p.Ser671Ter | |
| NM_001184880.2:c.2012C>G MANE Select | NP_001171809.1:p.Ser671Ter | |
| NM_020766.3:c.2012C>G | NP_065817.2:p.Ser671Ter |