ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128393267T>C , CM000667.2:g.128393267T>C | GRCh38 |
| NC_000005.9:g.127728960T>C , CM000667.1:g.127728960T>C | GRCh37 |
| NC_000005.8:g.127756859T>C | NCBI36 |
| NG_008750.1:g.149776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.1040A>G | ||
| ENST00000262464.9:c.1333A>G MANE Select | ENSP00000262464.4:p.Ser445Gly | |
| ENST00000262464.8:c.1333A>G | ENSP00000262464.4:p.Ser445Gly | |
| ENST00000508053.5:c.1333A>G | ENSP00000424571.1:p.Ser445Gly | |
| ENST00000508989.5:c.1234A>G | ENSP00000425596.1:p.Ser412Gly | |
| ENST00000619499.4:c.1330A>G | ENSP00000482132.1:p.Ser444Gly | |
| NM_001999.3:c.1333A>G | NP_001990.2:p.Ser445Gly | |
| XM_017009228.2:c.1180A>G | XP_016864717.1:p.Ser394Gly | |
| NM_001999.4:c.1333A>G MANE Select | NP_001990.2:p.Ser445Gly |