Linked Data
ClinVar Variation Id:
92885
dbSNP Id:
rs140349036
ExAC:
11:6637938 C / G
gnomAD v2:
11-6637938-C-G
gnomAD v3:
11-6616707-C-G
gnomAD v4:
11-6616707-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616707C>G , CM000673.2:g.6616707C>G | GRCh38 |
| NC_000011.9:g.6637938C>G , CM000673.1:g.6637938C>G | GRCh37 |
| NC_000011.8:g.6594514C>G | NCBI36 |
| NG_008653.1:g.7755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.726G>C | ENSP00000507321.1:p.Leu242= | |
| ENST00000299427.12:c.840G>C MANE Select | ENSP00000299427.6:p.Leu280= | |
| ENST00000436873.7:c.312+594G>C | ||
| ENST00000524788.2:n.1999G>C | ||
| ENST00000524903.2:n.2115G>C | ||
| ENST00000528807.2:n.496G>C | ||
| ENST00000530040.2:n.480-204G>C | ||
| ENST00000533371.6:c.111G>C | ENSP00000437066.1:p.Leu37= | |
| ENST00000642892.1:c.111G>C | ENSP00000494165.1:p.Leu37= | |
| ENST00000643439.1:c.*580G>C | ENSP00000495849.1:n.*580G>C | |
| ENST00000643479.1:n.869G>C | ||
| ENST00000643516.1:c.396-204G>C | ||
| ENST00000644151.1:n.2279G>C | ||
| ENST00000644218.1:c.840G>C | ENSP00000493574.1:p.Leu280= | |
| ENST00000644683.1:c.*293G>C | ENSP00000494085.1:n.*293G>C | |
| ENST00000644810.1:c.561G>C | ENSP00000495895.1:p.Leu187= | |
| ENST00000644831.1:n.1016G>C | ||
| ENST00000644933.1:c.111G>C | ENSP00000496133.1:p.Leu37= | |
| ENST00000645020.1:n.2130G>C | ||
| ENST00000645285.1:c.111G>C | ENSP00000495058.1:p.Leu37= | |
| ENST00000645331.1:n.1206G>C | ||
| ENST00000645620.1:c.111G>C | ENSP00000493657.1:p.Leu37= | |
| ENST00000646777.1:n.1016G>C | ||
| ENST00000647016.1:n.1320G>C | ||
| ENST00000647152.1:c.111G>C | ENSP00000495893.1:p.Leu37= | |
| ENST00000647209.1:c.*709G>C | ENSP00000495558.1:n.*709G>C | |
| ENST00000647346.1:n.1860G>C | ||
| ENST00000299427.10:c.840G>C | ENSP00000299427.6:p.Leu280= | |
| ENST00000436873.6:c.451-204G>C | ENSP00000398136.2:n.451-204G>C | |
| ENST00000524788.1:n.540G>C | ||
| ENST00000528807.1:n.390G>C | ||
| ENST00000533371.5:c.111G>C | ENSP00000437066.1:p.Leu37= | |
| ENST00000611494.4:c.840G>C | ENSP00000484546.1:p.Leu280= | |
| NM_000391.3:c.840G>C | NP_000382.3:p.Leu280= | |
| NM_000391.4:c.840G>C MANE Select | NP_000382.3:p.Leu280= |