Linked Data
ClinVar Variation Id:
2076900
ClinVar RCV Id:
RCV002985250
dbSNP Id:
rs564462751
ExAC:
14:21792984 C / T
gnomAD v2:
14-21792984-C-T
gnomAD v3:
14-21324825-C-T
gnomAD v4:
14-21324825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324825C>T , CM000676.2:g.21324825C>T | GRCh38 |
| NC_000014.8:g.21792984C>T , CM000676.1:g.21792984C>T | GRCh37 |
| NC_000014.7:g.20862824C>T | NCBI36 |
| NG_008933.1:g.41849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1970C>T MANE Select | ENSP00000382895.2:p.Ser657Phe | |
| ENST00000382933.8:c.689-2798C>T | ENSP00000372391.4:n.689-2798C>T | |
| ENST00000400017.6:c.1970C>T | ENSP00000382895.2:p.Ser657Phe | |
| ENST00000553500.5:n.328+100C>T | ||
| ENST00000553927.1:n.902C>T | ||
| ENST00000554303.1:c.356C>T | ENSP00000450426.1:p.Ser119Phe | |
| ENST00000555322.5:c.397C>T | ||
| ENST00000555489.5:c.213-50C>T | ENSP00000451044.1:n.213-50C>T | |
| ENST00000555587.5:c.395C>T | ENSP00000451262.1:p.Ser132Phe | |
| ENST00000556336.5:c.1682-2798C>T | ENSP00000450445.1:n.1682-2798C>T | |
| ENST00000557771.5:c.1856C>T | ENSP00000451219.1:p.Ser619Phe | |
| NM_020366.3:c.1970C>T | NP_065099.3:p.Ser657Phe | |
| XM_005267879.2:c.896C>T | XP_005267936.1:p.Ser299Phe | |
| XM_005267880.2:c.863C>T | XP_005267937.1:p.Ser288Phe | |
| XM_005267881.2:c.344C>T | XP_005267938.1:p.Ser115Phe | |
| XM_011536978.1:c.896C>T | XP_011535280.1:p.Ser299Phe | |
| XM_011536979.1:c.796+100C>T | XP_011535281.1:n.796+100C>T | |
| XM_011536980.1:c.796+100C>T | XP_011535282.1:n.796+100C>T | |
| XM_011536981.1:c.896C>T | XP_011535283.1:p.Ser299Phe | |
| XM_011536982.1:c.796+100C>T | XP_011535284.1:n.796+100C>T | |
| XM_011536983.1:c.1937C>T | XP_011535285.1:p.Ser646Phe | |
| XM_005267881.3:c.344C>T | XP_005267938.1:p.Ser115Phe | |
| XM_017021473.1:c.896C>T | XP_016876962.1:p.Ser299Phe | |
| XM_024449663.1:c.896C>T | XP_024305431.1:p.Ser299Phe | |
| XM_024449664.1:c.896C>T | XP_024305432.1:p.Ser299Phe | |
| XM_024449665.1:c.796+100C>T | XP_024305433.1:n.796+100C>T | |
| XM_024449666.1:c.796+100C>T | XP_024305434.1:n.796+100C>T | |
| NM_001377523.1:c.689-2798C>T | NP_001364452.1:n.689-2798C>T | |
| NM_001377948.1:c.896C>T | NP_001364877.1:p.Ser299Phe | |
| NM_001377949.1:c.796+100C>T | NP_001364878.1:n.796+100C>T | |
| NM_001377950.1:c.689-2798C>T | NP_001364879.1:n.689-2798C>T | |
| NM_001377951.1:c.191-2798C>T | NP_001364880.1:n.191-2798C>T | |
| NM_020366.4:c.1970C>T MANE Select | NP_065099.3:p.Ser657Phe |