Linked Data
dbSNP Id:
rs760391247
ExAC:
16:31102603 G / C
gnomAD v2:
16-31102603-G-C
gnomAD v4:
16-31091282-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31091282G>C , CM000678.2:g.31091282G>C | GRCh38 |
| NC_000016.9:g.31102603G>C , CM000678.1:g.31102603G>C | GRCh37 |
| NC_000016.8:g.31010104G>C | NCBI36 |
| NG_011564.1:g.8674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.344C>G MANE Select | ENSP00000378426.2:p.Ala115Gly | |
| ENST00000300851.10:c.405C>G | ENSP00000300851.6:p.Arg135= | |
| ENST00000319788.11:c.426C>G | ENSP00000326135.7:p.Arg142= | |
| ENST00000354895.4:c.234C>G | ENSP00000346969.4:p.Arg78= | |
| ENST00000394971.7:c.438C>G | ENSP00000378422.3:p.Arg146= | |
| ENST00000394975.2:c.344C>G | ENSP00000378426.2:p.Ala115Gly | |
| ENST00000420057.2:c.306C>G | ||
| ENST00000472468.1:c.29C>G | ENSP00000458994.1:p.Ala10Gly | |
| ENST00000498155.1:c.441C>G | ENSP00000417662.1:p.Arg147= | |
| ENST00000529564.1:c.283+2030C>G | ENSP00000431371.1:n.283+2030C>G | |
| ENST00000532364.1:c.173+3275C>G | ENSP00000460316.1:n.173+3275C>G | |
| ENST00000533518.5:c.217C>G | ||
| NM_001311311.1:c.428C>G | NP_001298240.1:p.Ala143Gly | |
| NM_024006.4:c.344C>G | NP_076869.1:p.Ala115Gly | |
| NM_024006.5:c.344C>G | NP_076869.1:p.Ala115Gly | |
| NM_206824.1:c.234C>G | NP_996560.1:p.Arg78= | |
| NM_206824.2:c.234C>G | NP_996560.1:p.Arg78= | |
| XM_011545944.1:c.344C>G | XP_011544246.1:p.Ala115Gly | |
| XM_011545945.1:c.234C>G | XP_011544247.1:p.Arg78= | |
| XR_950848.1:n.1132C>G | ||
| NM_024006.6:c.344C>G MANE Select | NP_076869.1:p.Ala115Gly | |
| NM_001311311.2:c.428C>G | NP_001298240.1:p.Ala143Gly | |
| NM_206824.3:c.234C>G | NP_996560.1:p.Arg78= |