Linked Data
ClinVar Variation Id:
310825
dbSNP Id:
rs143361850
ExAC:
12:993869 C / T
gnomAD v2:
12-993869-C-T
gnomAD v4:
12-884703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.884703C>T , CM000674.2:g.884703C>T | GRCh38 |
| NC_000012.11:g.993869C>T , CM000674.1:g.993869C>T | GRCh37 |
| NC_000012.10:g.864130C>T | NCBI36 |
| NG_007984.2:g.136645C>T | |
| NG_007984.3:g.136645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.3899C>T MANE Select | ENSP00000313059.6:p.Ser1300Phe | |
| ENST00000340908.9:c.4655C>T MANE Plus Clinical | ENSP00000341292.5:p.Ser1552Phe | |
| ENST00000674810.1:n.4496C>T | ||
| ENST00000675236.1:n.2794C>T | ||
| ENST00000675631.1:c.2678C>T | ENSP00000502415.1:p.Ser893Phe | |
| ENST00000676347.1:c.1346C>T | ENSP00000501875.1:p.Ser449Phe | |
| ENST00000315939.10:c.3899C>T | ENSP00000313059.6:p.Ser1300Phe | |
| ENST00000340908.8:c.4655C>T | ENSP00000341292.5:p.Ser1552Phe | |
| ENST00000530271.6:c.5138C>T | ENSP00000433548.3:p.Ser1713Phe | |
| ENST00000535572.5:c.3158C>T | ENSP00000441972.1:p.Ser1053Phe | |
| ENST00000537687.5:c.4679C>T | ENSP00000444465.1:p.Ser1560Phe | |
| NM_001184985.1:c.4679C>T | NP_001171914.1:p.Ser1560Phe | |
| NM_014823.2:c.3158C>T | NP_055638.2:p.Ser1053Phe | |
| NM_018979.3:c.3899C>T | NP_061852.3:p.Ser1300Phe | |
| NM_213655.4:c.4655C>T | NP_998820.3:p.Ser1552Phe | |
| XM_006719003.1:c.3896C>T | XP_006719066.1:p.Ser1299Phe | |
| XM_011520997.1:c.5138C>T | XP_011519299.1:p.Ser1713Phe | |
| XM_011520998.1:c.5135C>T | XP_011519300.1:p.Ser1712Phe | |
| XM_011520999.1:c.5138C>T | XP_011519301.1:p.Ser1713Phe | |
| XM_011521000.1:c.5138C>T | XP_011519302.1:p.Ser1713Phe | |
| XM_011521001.1:c.4859C>T | XP_011519303.1:p.Ser1620Phe | |
| XM_011521002.1:c.4676C>T | XP_011519304.1:p.Ser1559Phe | |
| XM_011521003.1:c.4400C>T | XP_011519305.1:p.Ser1467Phe | |
| XM_011521004.1:c.4397C>T | XP_011519306.1:p.Ser1466Phe | |
| XM_011521005.1:c.3917C>T | XP_011519307.1:p.Ser1306Phe | |
| XM_011521006.1:c.3815C>T | XP_011519308.1:p.Ser1272Phe | |
| XM_011521007.1:c.3812C>T | XP_011519309.1:p.Ser1271Phe | |
| XM_011521008.1:c.3077C>T | XP_011519310.1:p.Ser1026Phe | |
| XM_011521009.1:c.3074C>T | XP_011519311.1:p.Ser1025Phe | |
| XM_006719003.2:c.3896C>T | XP_006719066.1:p.Ser1299Phe | |
| XM_011520997.3:c.5138C>T | XP_011519299.1:p.Ser1713Phe | |
| XM_011520998.2:c.5135C>T | XP_011519300.1:p.Ser1712Phe | |
| XM_011520999.2:c.5138C>T | XP_011519301.1:p.Ser1713Phe | |
| XM_011521000.2:c.5138C>T | XP_011519302.1:p.Ser1713Phe | |
| XM_011521001.2:c.4859C>T | XP_011519303.1:p.Ser1620Phe | |
| XM_011521002.2:c.4676C>T | XP_011519304.1:p.Ser1559Phe | |
| XM_011521003.2:c.4400C>T | XP_011519305.1:p.Ser1467Phe | |
| XM_011521004.2:c.4397C>T | XP_011519306.1:p.Ser1466Phe | |
| XM_011521005.2:c.3917C>T | XP_011519307.1:p.Ser1306Phe | |
| XM_011521006.2:c.3815C>T | XP_011519308.1:p.Ser1272Phe | |
| XM_011521007.2:c.3812C>T | XP_011519309.1:p.Ser1271Phe | |
| XM_011521008.2:c.3077C>T | XP_011519310.1:p.Ser1026Phe | |
| XM_011521009.2:c.3074C>T | XP_011519311.1:p.Ser1025Phe | |
| XM_017019834.1:c.3437C>T | XP_016875323.1:p.Ser1146Phe | |
| XM_017019835.1:c.3356C>T | XP_016875324.1:p.Ser1119Phe | |
| XM_017019836.1:c.3353C>T | XP_016875325.1:p.Ser1118Phe | |
| XM_017019837.1:c.3161C>T | XP_016875326.1:p.Ser1054Phe | |
| XM_017019838.1:c.3158C>T | XP_016875327.1:p.Ser1053Phe | |
| XM_017019839.1:c.3077C>T | XP_016875328.1:p.Ser1026Phe | |
| NM_018979.4:c.3899C>T MANE Select | NP_061852.3:p.Ser1300Phe | |
| NM_014823.3:c.3158C>T | NP_055638.2:p.Ser1053Phe | |
| NM_001184985.2:c.4679C>T | NP_001171914.1:p.Ser1560Phe | |
| NM_213655.5:c.4655C>T MANE Plus Clinical | NP_998820.3:p.Ser1552Phe |