Linked Data
ClinVar Variation Id:
1696901
ClinVar RCV Id:
RCV002267247
dbSNP Id:
rs2147313141
gnomAD v4:
18-62148307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62148307G>A , CM000680.2:g.62148307G>A | GRCh38 |
| NC_000018.9:g.59815540G>A , CM000680.1:g.59815540G>A | GRCh37 |
| NC_000018.8:g.57966520G>A | NCBI36 |
| NG_033144.1:g.43750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.581C>T | ENSP00000350263.4:p.Ser194Phe | |
| ENST00000585344.6:c.581C>T | ENSP00000465897.2:p.Ser194Phe | |
| ENST00000586566.2:c.581C>T | ENSP00000467410.2:p.Ser194Phe | |
| ENST00000588571.6:c.581C>T | ENSP00000466035.2:p.Ser194Phe | |
| ENST00000589339.6:c.581C>T | ENSP00000465506.2:p.Ser194Phe | |
| ENST00000589414.6:n.44C>T | ||
| ENST00000591238.6:c.581C>T | ENSP00000466462.2:p.Ser194Phe | |
| ENST00000592803.2:c.344C>T | ||
| ENST00000638167.1:c.581C>T | ENSP00000491549.1:p.Ser194Phe | |
| ENST00000638183.1:c.581C>T | ENSP00000491013.1:p.Ser194Phe | |
| ENST00000638329.1:c.581C>T | ENSP00000492804.1:p.Ser194Phe | |
| ENST00000638369.1:c.581C>T | ENSP00000491811.1:p.Ser194Phe | |
| ENST00000638424.1:c.581C>T | ENSP00000491963.1:p.Ser194Phe | |
| ENST00000638435.1:c.350C>T | ENSP00000491850.1:p.Ser117Phe | |
| ENST00000638591.1:c.581C>T | ENSP00000492660.1:p.Ser194Phe | |
| ENST00000638858.1:n.560C>T | ||
| ENST00000638904.1:c.581C>T | ENSP00000491318.1:p.Ser194Phe | |
| ENST00000638936.1:c.581C>T | ENSP00000492592.1:p.Ser194Phe | |
| ENST00000638977.1:c.581C>T | ENSP00000491010.1:p.Ser194Phe | |
| ENST00000639174.1:c.581C>T | ENSP00000492783.1:p.Ser194Phe | |
| ENST00000639214.1:n.822C>T | ||
| ENST00000639342.1:c.443-54C>T | ENSP00000491022.1:n.443-54C>T | |
| ENST00000639600.1:c.111C>T | ||
| ENST00000639681.1:c.550-54C>T | ENSP00000491929.1:n.550-54C>T | |
| ENST00000639758.1:c.581C>T | ENSP00000491475.1:p.Ser194Phe | |
| ENST00000639902.1:c.581C>T | ENSP00000490965.1:p.Ser194Phe | |
| ENST00000639912.1:c.581C>T | ENSP00000490970.1:p.Ser194Phe | |
| ENST00000640050.1:c.581C>T | ENSP00000492051.1:p.Ser194Phe | |
| ENST00000640145.1:c.581C>T | ENSP00000491525.1:p.Ser194Phe | |
| ENST00000640170.1:c.550-54C>T | ENSP00000491270.1:n.550-54C>T | |
| ENST00000640252.2:c.581C>T MANE Select | ENSP00000492233.1:p.Ser194Phe | |
| ENST00000640268.1:c.581C>T | ENSP00000491111.1:p.Ser194Phe | |
| ENST00000640540.1:c.581C>T | ENSP00000491620.1:p.Ser194Phe | |
| ENST00000640593.1:c.550-54C>T | ENSP00000492017.1:n.550-54C>T | |
| ENST00000640876.1:c.581C>T | ENSP00000491628.1:p.Ser194Phe | |
| ENST00000357637.9:c.581C>T | ENSP00000350263.4:p.Ser194Phe | |
| ENST00000400334.7:c.581C>T | ENSP00000383188.2:p.Ser194Phe | |
| ENST00000588748.5:c.350C>T | ENSP00000467458.1:p.Ser117Phe | |
| ENST00000589414.5:n.32C>T | ||
| ENST00000591238.5:c.350C>T | ENSP00000466462.1:p.Ser117Phe | |
| ENST00000592803.1:c.29-54C>T | ||
| NM_012327.5:c.581C>T | NP_036459.1:p.Ser194Phe | |
| NM_176787.4:c.581C>T | NP_789744.1:p.Ser194Phe | |
| XM_011525889.1:c.581C>T | XP_011524191.1:p.Ser194Phe | |
| XM_011525890.1:c.581C>T | XP_011524192.1:p.Ser194Phe | |
| XM_011525891.1:c.581C>T | XP_011524193.1:p.Ser194Phe | |
| XM_011525892.1:c.581C>T | XP_011524194.1:p.Ser194Phe | |
| XM_011525893.1:c.581C>T | XP_011524195.1:p.Ser194Phe | |
| XM_011525894.1:c.581C>T | XP_011524196.1:p.Ser194Phe | |
| XM_011525895.1:c.581C>T | XP_011524197.1:p.Ser194Phe | |
| XM_011525896.1:c.581C>T | XP_011524198.1:p.Ser194Phe | |
| XM_011525897.1:c.581C>T | XP_011524199.1:p.Ser194Phe | |
| XM_011525898.1:c.581C>T | XP_011524200.1:p.Ser194Phe | |
| XM_017025685.1:c.581C>T | XP_016881174.1:p.Ser194Phe | |
| XM_017025686.1:c.581C>T | XP_016881175.1:p.Ser194Phe | |
| NM_176787.5:c.581C>T MANE Select | NP_789744.1:p.Ser194Phe | |
| NM_012327.6:c.581C>T | NP_036459.1:p.Ser194Phe |