ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00028887 (AMR)
Exomes Max Group AF
0.00038809 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13212149C>A , CM000681.2:g.13212149C>A | GRCh38 |
| NC_000019.9:g.13322963C>A , CM000681.1:g.13322963C>A | GRCh37 |
| NC_000019.8:g.13183963C>A | NCBI36 |
| NG_011569.1:g.299312G>T , LRG_7:g.299312G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6257G>T MANE Select | ENSP00000353362.5:p.Gly2086Val | |
| ENST00000573710.7:c.6263G>T | ENSP00000460092.3:p.Gly2088Val | |
| ENST00000585802.6:c.1418G>T | ENSP00000465598.2:p.Gly473Val | |
| ENST00000635727.1:c.6260G>T | ENSP00000490001.1:p.Gly2087Val | |
| ENST00000635895.1:c.6260G>T | ENSP00000490323.1:p.Gly2087Val | |
| ENST00000636012.1:c.6260G>T | ENSP00000490223.1:p.Gly2087Val | |
| ENST00000636389.1:c.6260G>T | ENSP00000489992.1:p.Gly2087Val | |
| ENST00000636473.1:c.1127G>T | ENSP00000490173.1:p.Gly376Val | |
| ENST00000636549.1:c.6266G>T | ENSP00000490578.1:p.Gly2089Val | |
| ENST00000636610.1:n.1174G>T | ||
| ENST00000636768.1:c.787G>T | ENSP00000490190.1:n.787G>T | |
| ENST00000637276.1:c.6260G>T | ENSP00000489777.1:p.Gly2087Val | |
| ENST00000637432.1:c.6275G>T | ENSP00000490617.1:p.Gly2092Val | |
| ENST00000637736.1:c.6119G>T | ENSP00000489861.1:p.Gly2040Val | |
| ENST00000637769.1:c.6260G>T | ENSP00000489778.1:p.Gly2087Val | |
| ENST00000637927.1:c.6263G>T | ENSP00000489715.1:p.Gly2088Val | |
| ENST00000638009.2:c.6260G>T | ENSP00000489913.1:p.Gly2087Val | |
| ENST00000638029.1:c.6275G>T | ENSP00000489829.1:p.Gly2092Val | |
| ENST00000664864.1:c.6461G>T | ENSP00000499449.1:p.Gly2154Val | |
| ENST00000360228.9:c.6257G>T | ENSP00000353362.5:p.Gly2086Val | |
| ENST00000573710.6:c.6260G>T | ENSP00000460092.2:p.Gly2087Val | |
| ENST00000585802.5:c.2315G>T | ENSP00000465598.1:p.Gly772Val | |
| ENST00000587525.5:c.1718G>T | ENSP00000467729.1:p.Gly573Val | |
| ENST00000614285.4:c.6275G>T | ENSP00000479983.1:p.Gly2092Val | |
| NM_000068.3:c.6275G>T | NP_000059.3:p.Gly2092Val | |
| NM_001127221.1:c.6260G>T , LRG_7t1:c.6260G>T | NP_001120693.1:p.Gly2087Val | |
| NM_001127222.1:c.6257G>T | NP_001120694.1:p.Gly2086Val | |
| NM_001174080.1:c.6266G>T | NP_001167551.1:p.Gly2089Val | |
| NM_023035.2:c.6275G>T | NP_075461.2:p.Gly2092Val | |
| NM_000068.4:c.6275G>T | NP_000059.3:p.Gly2092Val | |
| NM_001127222.2:c.6257G>T MANE Select | NP_001120694.1:p.Gly2086Val | |
| NM_001174080.2:c.6266G>T | NP_001167551.1:p.Gly2089Val | |
| NM_023035.3:c.6275G>T | NP_075461.2:p.Gly2092Val | |
| NM_001127221.2:c.6260G>T | NP_001120693.1:p.Gly2087Val |