Linked Data
dbSNP Id:
rs13168440
gnomAD v2:
5-42804115-T-C
gnomAD v3:
5-42804013-T-C
gnomAD v4:
5-42804013-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42804013T>C , CM000667.2:g.42804013T>C | GRCh38 |
| NC_000005.9:g.42804115T>C , CM000667.1:g.42804115T>C | GRCh37 |
| NC_000005.8:g.42839872T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000514985.6:c.534+643A>G MANE Select | ENSP00000420939.1:n.534+643A>G | |
| ENST00000506577.5:c.534+643A>G | ENSP00000425915.1:n.534+643A>G | |
| ENST00000507920.5:c.204-2682A>G | ENSP00000473340.1:n.204-2682A>G | |
| ENST00000509276.5:n.334+643A>G | ||
| ENST00000510965.1:c.534+643A>G | ENSP00000427414.1:n.534+643A>G | |
| ENST00000511224.5:c.534+643A>G | ENSP00000427671.1:n.534+643A>G | |
| ENST00000512980.5:n.2726+643A>G | ||
| ENST00000513303.5:n.488-2682A>G | ||
| ENST00000514218.5:c.534+643A>G | ENSP00000421626.1:n.534+643A>G | |
| ENST00000514403.1:n.521+643A>G | ||
| ENST00000514985.5:c.534+643A>G | ENSP00000420939.1:n.534+643A>G | |
| NM_001085486.1:c.534+643A>G | NP_001078955.1:n.534+643A>G | |
| NM_001093726.1:c.624+643A>G | NP_001087195.1:n.624+643A>G | |
| NM_005410.2:c.534+643A>G | NP_005401.3:n.534+643A>G | |
| NM_001085486.2:c.534+643A>G | NP_001078955.1:n.534+643A>G | |
| NM_001093726.2:c.624+643A>G | NP_001087195.1:n.624+643A>G | |
| NM_005410.3:c.534+643A>G | NP_005401.3:n.534+643A>G | |
| NM_005410.4:c.534+643A>G MANE Select | NP_005401.3:n.534+643A>G | |
| NM_001085486.3:c.534+643A>G | NP_001078955.1:n.534+643A>G | |
| NM_001093726.3:c.624+643A>G | NP_001087195.1:n.624+643A>G |