ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022901 (MID)
Genomes Max Group AF
0.00004741 (AFR)
Exomes Max Group AF
0.00024163 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.885948A>G , CM000674.2:g.885948A>G | GRCh38 |
| NC_000012.11:g.995114A>G , CM000674.1:g.995114A>G | GRCh37 |
| NC_000012.10:g.865375A>G | NCBI36 |
| NG_007984.2:g.137890A>G | |
| NG_007984.3:g.137890A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5144A>G MANE Select | ENSP00000313059.6:p.Asn1715Ser | |
| ENST00000340908.9:c.5900A>G MANE Plus Clinical | ENSP00000341292.5:p.Asn1967Ser | |
| ENST00000675631.1:c.3923A>G | ENSP00000502415.1:p.Asn1308Ser | |
| ENST00000676347.1:c.2591A>G | ENSP00000501875.1:p.Asn864Ser | |
| ENST00000315939.10:c.5144A>G | ENSP00000313059.6:p.Asn1715Ser | |
| ENST00000340908.8:c.5900A>G | ENSP00000341292.5:p.Asn1967Ser | |
| ENST00000530271.6:c.6383A>G | ENSP00000433548.3:p.Asn2128Ser | |
| ENST00000535572.5:c.4403A>G | ENSP00000441972.1:p.Asn1468Ser | |
| ENST00000537687.5:c.5924A>G | ENSP00000444465.1:p.Asn1975Ser | |
| NM_001184985.1:c.5924A>G | NP_001171914.1:p.Asn1975Ser | |
| NM_014823.2:c.4403A>G | NP_055638.2:p.Asn1468Ser | |
| NM_018979.3:c.5144A>G | NP_061852.3:p.Asn1715Ser | |
| NM_213655.4:c.5900A>G | NP_998820.3:p.Asn1967Ser | |
| XM_006719003.1:c.5141A>G | XP_006719066.1:p.Asn1714Ser | |
| XM_011520997.1:c.6383A>G | XP_011519299.1:p.Asn2128Ser | |
| XM_011520998.1:c.6380A>G | XP_011519300.1:p.Asn2127Ser | |
| XM_011520999.1:c.6383A>G | XP_011519301.1:p.Asn2128Ser | |
| XM_011521000.1:c.6383A>G | XP_011519302.1:p.Asn2128Ser | |
| XM_011521001.1:c.6104A>G | XP_011519303.1:p.Asn2035Ser | |
| XM_011521002.1:c.5921A>G | XP_011519304.1:p.Asn1974Ser | |
| XM_011521003.1:c.5645A>G | XP_011519305.1:p.Asn1882Ser | |
| XM_011521004.1:c.5642A>G | XP_011519306.1:p.Asn1881Ser | |
| XM_011521005.1:c.5162A>G | XP_011519307.1:p.Asn1721Ser | |
| XM_011521006.1:c.5060A>G | XP_011519308.1:p.Asn1687Ser | |
| XM_011521007.1:c.5057A>G | XP_011519309.1:p.Asn1686Ser | |
| XM_011521008.1:c.4322A>G | XP_011519310.1:p.Asn1441Ser | |
| XM_011521009.1:c.4319A>G | XP_011519311.1:p.Asn1440Ser | |
| XM_006719003.2:c.5141A>G | XP_006719066.1:p.Asn1714Ser | |
| XM_011520997.3:c.6383A>G | XP_011519299.1:p.Asn2128Ser | |
| XM_011520998.2:c.6380A>G | XP_011519300.1:p.Asn2127Ser | |
| XM_011520999.2:c.6383A>G | XP_011519301.1:p.Asn2128Ser | |
| XM_011521000.2:c.6383A>G | XP_011519302.1:p.Asn2128Ser | |
| XM_011521001.2:c.6104A>G | XP_011519303.1:p.Asn2035Ser | |
| XM_011521002.2:c.5921A>G | XP_011519304.1:p.Asn1974Ser | |
| XM_011521003.2:c.5645A>G | XP_011519305.1:p.Asn1882Ser | |
| XM_011521004.2:c.5642A>G | XP_011519306.1:p.Asn1881Ser | |
| XM_011521005.2:c.5162A>G | XP_011519307.1:p.Asn1721Ser | |
| XM_011521006.2:c.5060A>G | XP_011519308.1:p.Asn1687Ser | |
| XM_011521007.2:c.5057A>G | XP_011519309.1:p.Asn1686Ser | |
| XM_011521008.2:c.4322A>G | XP_011519310.1:p.Asn1441Ser | |
| XM_011521009.2:c.4319A>G | XP_011519311.1:p.Asn1440Ser | |
| XM_017019834.1:c.4682A>G | XP_016875323.1:p.Asn1561Ser | |
| XM_017019835.1:c.4601A>G | XP_016875324.1:p.Asn1534Ser | |
| XM_017019836.1:c.4598A>G | XP_016875325.1:p.Asn1533Ser | |
| XM_017019837.1:c.4406A>G | XP_016875326.1:p.Asn1469Ser | |
| XM_017019838.1:c.4403A>G | XP_016875327.1:p.Asn1468Ser | |
| XM_017019839.1:c.4322A>G | XP_016875328.1:p.Asn1441Ser | |
| NM_018979.4:c.5144A>G MANE Select | NP_061852.3:p.Asn1715Ser | |
| NM_014823.3:c.4403A>G | NP_055638.2:p.Asn1468Ser | |
| NM_001184985.2:c.5924A>G | NP_001171914.1:p.Asn1975Ser | |
| NM_213655.5:c.5900A>G MANE Plus Clinical | NP_998820.3:p.Asn1967Ser |