Linked Data
ClinVar Variation Id:
203956
dbSNP Id:
rs141647723
ExAC:
13:48547445 T / C
gnomAD v2:
13-48547445-T-C
gnomAD v3:
13-47973310-T-C
gnomAD v4:
13-47973310-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47973310T>C , CM000675.2:g.47973310T>C | GRCh38 |
| NC_000013.10:g.48547445T>C , CM000675.1:g.48547445T>C | GRCh37 |
| NC_000013.9:g.47445446T>C | NCBI36 |
| NG_008241.1:g.33018A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634878.2:c.91A>G | ||
| ENST00000642944.1:c.443A>G | ENSP00000495674.1:p.Glu148Gly | |
| ENST00000643023.1:c.617A>G | ENSP00000495664.1:p.Glu206Gly | |
| ENST00000643584.1:c.617A>G | ENSP00000494987.1:p.Glu206Gly | |
| ENST00000644338.1:c.617A>G | ENSP00000494723.1:p.Glu206Gly | |
| ENST00000646602.1:c.617A>G | ENSP00000495250.1:p.Glu206Gly | |
| ENST00000646804.1:c.443A>G | ENSP00000493977.1:p.Glu148Gly | |
| ENST00000646932.1:c.617A>G MANE Select | ENSP00000494360.1:p.Glu206Gly | |
| ENST00000647361.1:c.*410A>G | ENSP00000494607.1:n.*410A>G | |
| ENST00000378654.8:c.617A>G | ENSP00000367923.3:p.Glu206Gly | |
| ENST00000433022.1:c.173A>G | ENSP00000415091.1:p.Glu58Gly | |
| ENST00000434484.5:c.407A>G | ENSP00000392771.1:p.Glu136Gly | |
| ENST00000497202.6:c.711A>G | ENSP00000489175.1:n.711A>G | |
| ENST00000634878.1:c.91A>G | ||
| NM_003850.2:c.617A>G | NP_003841.1:p.Glu206Gly | |
| XM_011535292.1:c.380A>G | XP_011533594.1:p.Glu127Gly | |
| XM_011535293.1:c.215A>G | XP_011533595.1:p.Glu72Gly | |
| XR_941688.1:n.661A>G | ||
| NM_003850.3:c.617A>G MANE Select | NP_003841.1:p.Glu206Gly |