Linked Data
ClinVar Variation Id:
302159
ClinVar RCV Id:
RCV000363747
dbSNP Id:
rs200373616
ExAC:
11:10506377 T / G
gnomAD v2:
11-10506377-T-G
gnomAD v3:
11-10484830-T-G
gnomAD v4:
11-10484830-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10484830T>G , CM000673.2:g.10484830T>G | GRCh38 |
| NC_000011.9:g.10506377T>G , CM000673.1:g.10506377T>G | GRCh37 |
| NC_000011.8:g.10462953T>G | NCBI36 |
| NG_012041.1:g.39154T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.600T>G MANE Select | ENSP00000379801.2:p.Pro200= | |
| ENST00000396553.6:c.600T>G | ENSP00000379801.2:p.Pro200= | |
| ENST00000396554.7:c.627T>G | ENSP00000379802.3:p.Pro209= | |
| ENST00000444303.6:c.123T>G | ENSP00000396000.2:p.Pro41= | |
| ENST00000524866.5:c.600T>G | ENSP00000433284.1:p.Pro200= | |
| ENST00000528723.5:c.621T>G | ENSP00000436987.1:p.Pro207= | |
| ENST00000529507.5:c.600T>G | ENSP00000431648.1:p.Pro200= | |
| ENST00000529834.5:c.600T>G | ENSP00000435382.1:p.Pro200= | |
| ENST00000531227.1:n.354T>G | ||
| ENST00000534047.5:c.617-76T>G | ENSP00000433937.1:n.617-76T>G | |
| NM_000480.2:c.627T>G | NP_000471.1:p.Pro209= | |
| NM_001025389.1:c.600T>G | NP_001020560.1:p.Pro200= | |
| NM_001025390.1:c.621T>G | NP_001020561.1:p.Pro207= | |
| NM_001172430.1:c.600T>G | NP_001165901.1:p.Pro200= | |
| NM_001172431.1:c.123T>G | NP_001165902.1:p.Pro41= | |
| NM_000480.3:c.627T>G | NP_000471.1:p.Pro209= | |
| NM_001025389.2:c.600T>G MANE Select | NP_001020560.1:p.Pro200= | |
| NM_001025390.2:c.621T>G | NP_001020561.1:p.Pro207= | |
| NM_001172431.2:c.123T>G | NP_001165902.1:p.Pro41= |