Linked Data
ClinVar Variation Id:
291518
dbSNP Id:
rs768553239
ExAC:
1:103405970 C / G
gnomAD v2:
1-103405970-C-G
gnomAD v4:
1-102940414-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102940414C>G , CM000663.2:g.102940414C>G | GRCh38 |
| NC_000001.10:g.103405970C>G , CM000663.1:g.103405970C>G | GRCh37 |
| NC_000001.9:g.103178558C>G | NCBI36 |
| NG_008033.1:g.173083G>C | |
| NG_008033.2:g.173083G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3297G>C MANE Select | ENSP00000359114.3:p.Gly1099= | |
| ENST00000353414.8:c.3180G>C | ENSP00000302551.6:p.Gly1060= | |
| ENST00000358392.6:c.3333G>C | ENSP00000351163.2:p.Gly1111= | |
| ENST00000370096.7:c.3297G>C | ENSP00000359114.3:p.Gly1099= | |
| ENST00000512756.5:c.2949G>C | ENSP00000426533.1:p.Gly983= | |
| ENST00000635193.1:c.2631G>C | ||
| NM_001190709.1:c.3180G>C | NP_001177638.1:p.Gly1060= | |
| NM_001854.3:c.3297G>C | NP_001845.3:p.Gly1099= | |
| NM_080629.2:c.3333G>C | NP_542196.2:p.Gly1111= | |
| NM_080630.3:c.2949G>C | NP_542197.3:p.Gly983= | |
| XM_011540719.1:c.3297G>C | XP_011539021.1:p.Gly1099= | |
| XM_011540720.1:c.1530G>C | XP_011539022.1:p.Gly510= | |
| XM_011540721.1:c.885G>C | XP_011539023.1:p.Gly295= | |
| NR_134980.1:n.3631G>C | ||
| XM_017000334.1:c.3450G>C | XP_016855823.1:p.Gly1150= | |
| XM_017000335.1:c.3444G>C | XP_016855824.1:p.Gly1148= | |
| XM_017000336.1:c.3450G>C | XP_016855825.1:p.Gly1150= | |
| XM_017000337.1:c.1848G>C | XP_016855826.1:p.Gly616= | |
| NM_001854.4:c.3297G>C MANE Select | NP_001845.3:p.Gly1099= | |
| NM_080630.4:c.2949G>C | NP_542197.3:p.Gly983= | |
| NR_134980.2:n.3657G>C | ||
| NM_001190709.2:c.3180G>C | NP_001177638.1:p.Gly1060= | |
| NM_080629.3:c.3333G>C | NP_542196.2:p.Gly1111= |