Linked Data
dbSNP Id:
rs780089064
ExAC:
6:31129722 C / T
gnomAD v2:
6-31129722-C-T
gnomAD v4:
6-31161945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31161945C>T , CM000668.2:g.31161945C>T | GRCh38 |
| NC_000006.11:g.31129722C>T , CM000668.1:g.31129722C>T | GRCh37 |
| NC_000006.10:g.31237701C>T | NCBI36 |
| NG_054878.1:g.1294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542218.2:c.737C>T | ENSP00000439397.2:p.Pro246Leu | |
| ENST00000706778.1:c.737C>T | ENSP00000516543.1:p.Pro246Leu | |
| ENST00000706779.1:c.737C>T | ENSP00000516544.1:p.Pro246Leu | |
| ENST00000706780.1:c.737C>T | ENSP00000516545.1:p.Pro246Leu | |
| ENST00000706781.1:c.737C>T | ENSP00000516546.1:p.Pro246Leu | |
| ENST00000706782.1:c.737C>T | ENSP00000516547.1:p.Pro246Leu | |
| ENST00000706783.1:c.568C>T | ENSP00000516548.1:p.Arg190Trp | |
| ENST00000706785.1:c.*30C>T | ENSP00000516549.1:n.*30C>T | |
| ENST00000706786.1:c.568C>T | ENSP00000516550.1:p.Arg190Trp | |
| ENST00000706787.1:c.737C>T | ENSP00000516551.1:p.Pro246Leu | |
| ENST00000706788.1:n.688C>T | ||
| ENST00000376257.8:c.737C>T MANE Select | ENSP00000365433.3:p.Pro246Leu | |
| ENST00000376255.4:c.737C>T | ENSP00000365431.4:p.Pro246Leu | |
| ENST00000376257.7:c.737C>T | ENSP00000365433.3:p.Pro246Leu | |
| ENST00000496421.1:n.289C>T | ||
| ENST00000542218.1:c.497C>T | ENSP00000439397.1:p.Pro166Leu | |
| NM_001077511.1:c.737C>T | NP_001070979.1:p.Pro246Leu | |
| NM_007109.2:c.737C>T | NP_009040.2:p.Pro246Leu | |
| XM_005249334.2:c.737C>T | XP_005249391.1:p.Pro246Leu | |
| XM_011514829.1:c.737C>T | XP_011513131.1:p.Pro246Leu | |
| NM_001318908.1:c.737C>T | NP_001305837.1:p.Pro246Leu | |
| NM_007109.3:c.737C>T MANE Select | NP_009040.2:p.Pro246Leu | |
| NM_001077511.2:c.737C>T | NP_001070979.1:p.Pro246Leu | |
| NM_001318908.2:c.737C>T | NP_001305837.1:p.Pro246Leu |