Linked Data
ClinVar Variation Id:
1185787
ClinVar RCV Id:
RCV001544663
dbSNP Id:
rs1218997842
gnomAD v2:
19-41198271-G-A
gnomAD v3:
19-40692366-G-A
gnomAD v4:
19-40692366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692366G>A , CM000681.2:g.40692366G>A | GRCh38 |
| NC_000019.9:g.41198271G>A , CM000681.1:g.41198271G>A | GRCh37 |
| NC_000019.8:g.45890111G>A | NCBI36 |
| NG_027800.1:g.29520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1304C>T MANE Select | ENSP00000315118.3:p.Ser435Phe | |
| ENST00000593724.2:n.3127C>T | ||
| ENST00000594490.6:c.1226C>T | ENSP00000471310.2:p.Ser409Phe | |
| ENST00000594720.6:c.1304C>T | ENSP00000470876.2:p.Ser435Phe | |
| ENST00000596455.6:n.1596C>T | ||
| ENST00000601967.6:c.1304C>T | ENSP00000470916.2:p.Ser435Phe | |
| ENST00000676555.1:c.*729C>T | ENSP00000503387.1:n.*729C>T | |
| ENST00000676578.1:c.*1046C>T | ENSP00000504076.1:n.*1046C>T | |
| ENST00000676960.1:n.1429C>T | ||
| ENST00000676962.1:n.1583C>T | ||
| ENST00000677018.1:c.1304C>T | ENSP00000503480.1:p.Ser435Phe | |
| ENST00000677039.1:n.3507C>T | ||
| ENST00000677399.1:n.1746C>T | ||
| ENST00000677496.1:c.977C>T | ENSP00000504773.1:p.Ser326Phe | |
| ENST00000677517.1:c.977C>T | ENSP00000503519.1:p.Ser326Phe | |
| ENST00000677633.1:c.*727C>T | ENSP00000503645.1:n.*727C>T | |
| ENST00000677800.1:c.*4408C>T | ENSP00000503794.1:n.*4408C>T | |
| ENST00000678057.1:c.*868C>T | ENSP00000503762.1:n.*868C>T | |
| ENST00000678119.1:n.1498C>T | ||
| ENST00000678166.1:n.1447C>T | ||
| ENST00000678312.1:n.1641C>T | ||
| ENST00000678316.1:c.*727C>T | ENSP00000504112.1:n.*727C>T | |
| ENST00000678371.1:n.1754C>T | ||
| ENST00000678404.1:c.1304C>T | ENSP00000503944.1:p.Ser435Phe | |
| ENST00000678419.1:c.1304C>T | ENSP00000504085.1:p.Ser435Phe | |
| ENST00000678433.1:n.1660C>T | ||
| ENST00000678467.1:c.1304C>T | ENSP00000504072.1:p.Ser435Phe | |
| ENST00000678569.1:c.*289C>T | ENSP00000504261.1:n.*289C>T | |
| ENST00000678961.1:n.1659C>T | ||
| ENST00000679002.1:n.1483C>T | ||
| ENST00000679012.1:c.860C>T | ENSP00000504446.1:p.Ser287Phe | |
| ENST00000679070.1:c.*723C>T | ENSP00000503759.1:n.*723C>T | |
| ENST00000679130.1:c.1304C>T | ENSP00000504845.1:p.Ser435Phe | |
| ENST00000679315.1:c.*1134C>T | ENSP00000503065.1:n.*1134C>T | |
| ENST00000243583.10:c.1181C>T | ENSP00000243583.5:p.Ser394Phe | |
| ENST00000324464.7:c.1304C>T | ENSP00000315118.3:p.Ser435Phe | |
| ENST00000593724.1:n.1419C>T | ||
| NM_001142555.2:c.1181C>T | NP_001136027.1:p.Ser394Phe | |
| NM_024876.3:c.1304C>T | NP_079152.3:p.Ser435Phe | |
| XM_005259270.3:c.1466C>T | XP_005259327.2:p.Ser489Phe | |
| XM_005259271.3:c.1304C>T | XP_005259328.1:p.Ser435Phe | |
| XM_005259272.3:c.1304C>T | XP_005259329.1:p.Ser435Phe | |
| XM_005259273.3:c.1304C>T | XP_005259330.1:p.Ser435Phe | |
| XM_006723392.2:c.1304C>T | XP_006723455.1:p.Ser435Phe | |
| XM_006723393.2:c.1304C>T | XP_006723456.1:p.Ser435Phe | |
| XM_011527334.1:c.1304C>T | XP_011525636.1:p.Ser435Phe | |
| XM_011527335.1:c.1163C>T | XP_011525637.1:p.Ser388Phe | |
| XM_011527336.1:c.1334C>T | XP_011525638.1:p.Ser445Phe | |
| XM_011527337.1:c.1304C>T | XP_011525639.1:p.Ser435Phe | |
| XM_011527338.1:c.1304C>T | XP_011525640.1:p.Ser435Phe | |
| NM_024876.4:c.1304C>T MANE Select | NP_079152.3:p.Ser435Phe | |
| NM_001142555.3:c.1181C>T | NP_001136027.1:p.Ser394Phe |