Linked Data
dbSNP Id:
rs377482215
ExAC:
19:10742209 C / T
gnomAD v2:
19-10742209-C-T
gnomAD v3:
19-10631533-C-T
gnomAD v4:
19-10631533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631533C>T , CM000681.2:g.10631533C>T | GRCh38 |
| NC_000019.9:g.10742209C>T , CM000681.1:g.10742209C>T | GRCh37 |
| NC_000019.8:g.10603209C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.500C>T MANE Select | ENSP00000336888.4:p.Pro167Leu | |
| ENST00000335757.9:c.500C>T | ENSP00000336888.4:p.Pro167Leu | |
| ENST00000407327.8:c.494C>T | ENSP00000385135.3:p.Pro165Leu | |
| ENST00000586078.5:c.500C>T | ENSP00000466664.1:p.Pro167Leu | |
| ENST00000588409.1:c.246-3223C>T | ENSP00000468070.1:n.246-3223C>T | |
| ENST00000588465.5:n.409C>T | ||
| ENST00000588688.5:c.341C>T | ENSP00000467552.1:p.Pro114Leu | |
| ENST00000590382.5:c.335C>T | ENSP00000468691.1:p.Pro112Leu | |
| ENST00000590857.5:c.-50C>T | ENSP00000465547.1:n.-50C>T | |
| ENST00000592293.5:c.*297C>T | ENSP00000466612.1:n.*297C>T | |
| NM_001145056.1:c.494C>T | NP_001138528.1:p.Pro165Leu | |
| NM_020428.3:c.500C>T | NP_065161.3:p.Pro167Leu | |
| XM_005259997.1:c.500C>T | XP_005260054.1:p.Pro167Leu | |
| XM_005259999.1:c.494C>T | XP_005260056.1:p.Pro165Leu | |
| NM_001363611.1:c.500C>T | NP_001350540.1:p.Pro167Leu | |
| XM_005259999.2:c.494C>T | XP_005260056.1:p.Pro165Leu | |
| NM_020428.4:c.500C>T MANE Select | NP_065161.3:p.Pro167Leu | |
| NM_001145056.2:c.494C>T | NP_001138528.1:p.Pro165Leu | |
| NM_001363611.2:c.500C>T | NP_001350540.1:p.Pro167Leu |