Linked Data
ClinVar Variation Id:
461147
ClinVar RCV Id:
RCV000530731
dbSNP Id:
rs1419933310
gnomAD v2:
17-59761063-G-A
gnomAD v4:
17-61683702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683702G>A , CM000679.2:g.61683702G>A | GRCh38 |
| NC_000017.10:g.59761063G>A , CM000679.1:g.59761063G>A | GRCh37 |
| NC_000017.9:g.57115845G>A | NCBI36 |
| NG_007409.2:g.184858C>T , LRG_300:g.184858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2084C>T | ||
| ENST00000682453.1:c.3344C>T | ENSP00000506943.1:p.Ser1115Phe | |
| ENST00000682477.1:c.*2770C>T | ENSP00000507075.1:n.*2770C>T | |
| ENST00000682589.1:n.9221C>T | ||
| ENST00000682755.1:c.3122C>T | ENSP00000507660.1:p.Ser1041Phe | |
| ENST00000682989.1:c.*435C>T | ENSP00000507786.1:n.*435C>T | |
| ENST00000683039.1:c.3344C>T | ENSP00000508303.1:p.Ser1115Phe | |
| ENST00000683235.1:c.*759C>T | ENSP00000507646.1:n.*759C>T | |
| ENST00000683535.1:n.1474C>T | ||
| ENST00000684584.1:c.2507C>T | ENSP00000508044.1:p.Ser836Phe | |
| ENST00000684626.1:n.1590C>T | ||
| ENST00000684769.1:c.1534C>T | ENSP00000507691.1:n.1534C>T | |
| ENST00000259008.7:c.3344C>T MANE Select | ENSP00000259008.2:p.Ser1115Phe | |
| ENST00000259008.6:c.3344C>T | ENSP00000259008.2:p.Ser1115Phe | |
| NM_032043.2:c.3344C>T , LRG_300t1:c.3344C>T | NP_114432.2:p.Ser1115Phe | |
| XM_011525332.1:c.3404C>T | XP_011523634.1:p.Ser1135Phe | |
| XM_011525333.1:c.3404C>T | XP_011523635.1:p.Ser1135Phe | |
| XM_011525334.1:c.3404C>T | XP_011523636.1:p.Ser1135Phe | |
| XM_011525335.1:c.3344C>T | XP_011523637.1:p.Ser1115Phe | |
| XM_011525336.1:c.3284C>T | XP_011523638.1:p.Ser1095Phe | |
| XM_011525337.1:c.3203C>T | XP_011523639.1:p.Ser1068Phe | |
| XM_011525338.1:c.2921C>T | XP_011523640.1:p.Ser974Phe | |
| XM_011525332.3:c.3404C>T | XP_011523634.1:p.Ser1135Phe | |
| XM_011525333.3:c.3404C>T | XP_011523635.1:p.Ser1135Phe | |
| XM_011525334.2:c.3404C>T | XP_011523636.1:p.Ser1135Phe | |
| XM_011525335.3:c.3344C>T | XP_011523637.1:p.Ser1115Phe | |
| XM_011525336.2:c.3284C>T | XP_011523638.1:p.Ser1095Phe | |
| XM_011525337.2:c.3203C>T | XP_011523639.1:p.Ser1068Phe | |
| XM_011525338.2:c.2921C>T | XP_011523640.1:p.Ser974Phe | |
| XM_017025200.1:c.2861C>T | XP_016880689.1:p.Ser954Phe | |
| XM_017025201.1:c.2861C>T | XP_016880690.1:p.Ser954Phe | |
| XM_017025202.1:c.1490C>T | XP_016880691.1:p.Ser497Phe | |
| XM_017025203.1:c.1490C>T | XP_016880692.1:p.Ser497Phe | |
| NM_032043.3:c.3344C>T MANE Select | NP_114432.2:p.Ser1115Phe |