Linked Data
dbSNP Id:
rs757860968
ExAC:
19:10741813 C / T
gnomAD v2:
19-10741813-C-T
gnomAD v3:
19-10631137-C-T
gnomAD v4:
19-10631137-C-T
COSMIC:
COSM1711815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631137C>T , CM000681.2:g.10631137C>T | GRCh38 |
| NC_000019.9:g.10741813C>T , CM000681.1:g.10741813C>T | GRCh37 |
| NC_000019.8:g.10602813C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.326C>T MANE Select | ENSP00000336888.4:p.Pro109Leu | |
| ENST00000335757.9:c.326C>T | ENSP00000336888.4:p.Pro109Leu | |
| ENST00000407327.8:c.320C>T | ENSP00000385135.3:p.Pro107Leu | |
| ENST00000586078.5:c.326C>T | ENSP00000466664.1:p.Pro109Leu | |
| ENST00000588409.1:c.245+3133C>T | ENSP00000468070.1:n.245+3133C>T | |
| ENST00000588465.5:n.235C>T | ||
| ENST00000588688.5:c.167C>T | ENSP00000467552.1:p.Pro56Leu | |
| ENST00000590382.5:c.161C>T | ENSP00000468691.1:p.Pro54Leu | |
| ENST00000590857.5:c.-224C>T | ENSP00000465547.1:n.-224C>T | |
| ENST00000592293.5:c.*123C>T | ENSP00000466612.1:n.*123C>T | |
| NM_001145056.1:c.320C>T | NP_001138528.1:p.Pro107Leu | |
| NM_020428.3:c.326C>T | NP_065161.3:p.Pro109Leu | |
| XM_005259997.1:c.326C>T | XP_005260054.1:p.Pro109Leu | |
| XM_005259999.1:c.320C>T | XP_005260056.1:p.Pro107Leu | |
| NM_001363611.1:c.326C>T | NP_001350540.1:p.Pro109Leu | |
| XM_005259999.2:c.320C>T | XP_005260056.1:p.Pro107Leu | |
| NM_020428.4:c.326C>T MANE Select | NP_065161.3:p.Pro109Leu | |
| NM_001145056.2:c.320C>T | NP_001138528.1:p.Pro107Leu | |
| NM_001363611.2:c.326C>T | NP_001350540.1:p.Pro109Leu |