Linked Data
dbSNP Id:
rs761839654
ExAC:
11:6637713 G / A
gnomAD v2:
11-6637713-G-A
gnomAD v4:
11-6616482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616482G>A , CM000673.2:g.6616482G>A | GRCh38 |
| NC_000011.9:g.6637713G>A , CM000673.1:g.6637713G>A | GRCh37 |
| NC_000011.8:g.6594289G>A | NCBI36 |
| NG_008653.1:g.7980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.794C>T | ENSP00000507321.1:p.Pro265Leu | |
| ENST00000299427.12:c.908C>T MANE Select | ENSP00000299427.6:p.Pro303Leu | |
| ENST00000436873.7:c.313-408C>T | ||
| ENST00000530040.2:n.501C>T | ||
| ENST00000533371.6:c.179C>T | ENSP00000437066.1:p.Pro60Leu | |
| ENST00000642892.1:c.179C>T | ENSP00000494165.1:p.Pro60Leu | |
| ENST00000643439.1:c.*648C>T | ENSP00000495849.1:n.*648C>T | |
| ENST00000643479.1:n.1094C>T | ||
| ENST00000643516.1:c.417C>T | ||
| ENST00000644218.1:c.886+179C>T | ENSP00000493574.1:n.886+179C>T | |
| ENST00000644683.1:c.*361C>T | ENSP00000494085.1:n.*361C>T | |
| ENST00000644810.1:c.629C>T | ENSP00000495895.1:p.Pro210Leu | |
| ENST00000644831.1:n.1084C>T | ||
| ENST00000644933.1:c.179C>T | ENSP00000496133.1:p.Pro60Leu | |
| ENST00000645285.1:c.157+179C>T | ENSP00000495058.1:n.157+179C>T | |
| ENST00000645331.1:n.1431C>T | ||
| ENST00000645620.1:c.179C>T | ENSP00000493657.1:p.Pro60Leu | |
| ENST00000646691.1:n.1C>T | ||
| ENST00000646777.1:n.1241C>T | ||
| ENST00000647016.1:n.1388C>T | ||
| ENST00000647152.1:c.179C>T | ENSP00000495893.1:p.Pro60Leu | |
| ENST00000647209.1:c.*777C>T | ENSP00000495558.1:n.*777C>T | |
| ENST00000647346.1:n.1928C>T | ||
| ENST00000299427.10:c.908C>T | ENSP00000299427.6:p.Pro303Leu | |
| ENST00000436873.6:c.472C>T | ENSP00000398136.2:p.Pro158Ser | |
| ENST00000533371.5:c.179C>T | ENSP00000437066.1:p.Pro60Leu | |
| ENST00000611494.4:c.908C>T | ENSP00000484546.1:p.Pro303Leu | |
| NM_000391.3:c.908C>T | NP_000382.3:p.Pro303Leu | |
| NM_000391.4:c.908C>T MANE Select | NP_000382.3:p.Pro303Leu |