Linked Data
dbSNP Id:
rs576403760
ExAC:
11:71929750 C / G
gnomAD v2:
11-71929750-C-G
gnomAD v3:
11-72218706-C-G
gnomAD v4:
11-72218706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72218706C>G , CM000673.2:g.72218706C>G | GRCh38 |
| NC_000011.9:g.71929750C>G , CM000673.1:g.71929750C>G | GRCh37 |
| NC_000011.8:g.71607398C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298223.11:c.122C>G MANE Select | ENSP00000298223.6:p.Pro41Arg | |
| ENST00000298223.10:c.122C>G | ENSP00000298223.6:p.Pro41Arg | |
| ENST00000321324.11:c.161C>G | ENSP00000321957.7:p.Pro54Arg | |
| ENST00000449475.6:c.173C>G | ENSP00000405638.2:p.Pro58Arg | |
| ENST00000454954.6:c.27+1781C>G | ENSP00000414094.2:n.27+1781C>G | |
| ENST00000535625.5:c.122C>G | ENSP00000444794.1:p.Pro41Arg | |
| ENST00000536778.5:c.167C>G | ENSP00000438568.1:p.Pro56Arg | |
| ENST00000538353.1:c.122C>G | ENSP00000440337.1:p.Pro41Arg | |
| ENST00000539412.5:c.155C>G | ENSP00000441547.1:p.Pro52Arg | |
| ENST00000541003.5:c.260C>G | ENSP00000443307.1:p.Pro87Arg | |
| ENST00000619261.4:c.173C>G | ENSP00000480592.1:p.Pro58Arg | |
| NM_000803.4:c.122C>G | NP_000794.3:p.Pro41Arg | |
| NM_001113534.1:c.122C>G | NP_001107006.1:p.Pro41Arg | |
| NM_001113535.1:c.122C>G | NP_001107007.1:p.Pro41Arg | |
| NM_001113536.1:c.122C>G | NP_001107008.1:p.Pro41Arg | |
| XM_005273856.2:c.149C>G | XP_005273913.1:p.Pro50Arg | |
| XM_011544869.1:c.173C>G | XP_011543171.1:p.Pro58Arg | |
| XM_011544870.1:c.167C>G | XP_011543172.1:p.Pro56Arg | |
| XM_011544871.1:c.161C>G | XP_011543173.1:p.Pro54Arg | |
| XM_011544872.1:c.155C>G | XP_011543174.1:p.Pro52Arg | |
| XM_005273856.4:c.149C>G | XP_005273913.1:p.Pro50Arg | |
| XM_024448412.1:c.173C>G | XP_024304180.1:p.Pro58Arg | |
| NM_000803.5:c.122C>G MANE Select | NP_000794.3:p.Pro41Arg | |
| NM_001113534.2:c.122C>G | NP_001107006.1:p.Pro41Arg | |
| NM_001113535.2:c.122C>G | NP_001107007.1:p.Pro41Arg | |
| NM_001113536.2:c.122C>G | NP_001107008.1:p.Pro41Arg |