ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
ENST00000370096 (MANE Select)
0.998
ENST00000358392
0.998
ENST00000353414
0.998
ENST00000370090
0.998
ENST00000512756
0.998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946884C>G , CM000663.2:g.102946884C>G | GRCh38 |
| NC_000001.10:g.103412440C>G , CM000663.1:g.103412440C>G | GRCh37 |
| NC_000001.9:g.103185028C>G | NCBI36 |
| NG_008033.1:g.166613G>C | |
| NG_008033.2:g.166613G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3241G>C MANE Select | ENSP00000359114.3:p.Gly1081Arg | |
| ENST00000353414.8:c.3124G>C | ENSP00000302551.6:p.Gly1042Arg | |
| ENST00000358392.6:c.3277G>C | ENSP00000351163.2:p.Gly1093Arg | |
| ENST00000370096.7:c.3241G>C | ENSP00000359114.3:p.Gly1081Arg | |
| ENST00000512756.5:c.2893G>C | ENSP00000426533.1:p.Gly965Arg | |
| ENST00000635193.1:c.2575G>C | ||
| NM_001190709.1:c.3124G>C | NP_001177638.1:p.Gly1042Arg | |
| NM_001854.3:c.3241G>C | NP_001845.3:p.Gly1081Arg | |
| NM_080629.2:c.3277G>C | NP_542196.2:p.Gly1093Arg | |
| NM_080630.3:c.2893G>C | NP_542197.3:p.Gly965Arg | |
| XM_011540719.1:c.3241G>C | XP_011539021.1:p.Gly1081Arg | |
| XM_011540720.1:c.1474G>C | XP_011539022.1:p.Gly492Arg | |
| XM_011540721.1:c.829G>C | XP_011539023.1:p.Gly277Arg | |
| NR_134980.1:n.3575G>C | ||
| XM_017000334.1:c.3394G>C | XP_016855823.1:p.Gly1132Arg | |
| XM_017000335.1:c.3388G>C | XP_016855824.1:p.Gly1130Arg | |
| XM_017000336.1:c.3394G>C | XP_016855825.1:p.Gly1132Arg | |
| XM_017000337.1:c.1792G>C | XP_016855826.1:p.Gly598Arg | |
| NM_001854.4:c.3241G>C MANE Select | NP_001845.3:p.Gly1081Arg | |
| NM_080630.4:c.2893G>C | NP_542197.3:p.Gly965Arg | |
| NR_134980.2:n.3601G>C | ||
| NM_001190709.2:c.3124G>C | NP_001177638.1:p.Gly1042Arg | |
| NM_080629.3:c.3277G>C | NP_542196.2:p.Gly1093Arg |