Linked Data
ClinVar Variation Id:
4987
dbSNP Id:
rs10151259
ExAC:
14:21790040 G / T
gnomAD v2:
14-21790040-G-T
gnomAD v3:
14-21321881-G-T
gnomAD v4:
14-21321881-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21321881G>T , CM000676.2:g.21321881G>T | GRCh38 |
| NC_000014.8:g.21790040G>T , CM000676.1:g.21790040G>T | GRCh37 |
| NC_000014.7:g.20859880G>T | NCBI36 |
| NG_008933.1:g.38905G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400017.7:c.1639G>T MANE Select | ENSP00000382895.2:p.Ala547Ser | |
| ENST00000382933.8:c.565G>T | ENSP00000372391.4:p.Ala189Ser | |
| ENST00000400017.6:c.1639G>T | ENSP00000382895.2:p.Ala547Ser | |
| ENST00000553500.5:n.97G>T | ||
| ENST00000554303.1:c.58G>T | ENSP00000450426.1:p.Ala20Ser | |
| ENST00000555322.5:c.173G>T | ||
| ENST00000555587.5:c.64G>T | ENSP00000451262.1:p.Ala22Ser | |
| ENST00000556336.5:c.1558G>T | ENSP00000450445.1:p.Ala520Ser | |
| ENST00000557771.5:c.1558G>T | ENSP00000451219.1:p.Ala520Ser | |
| NM_020366.3:c.1639G>T | NP_065099.3:p.Ala547Ser | |
| XM_005267879.2:c.565G>T | XP_005267936.1:p.Ala189Ser | |
| XM_005267880.2:c.565G>T | XP_005267937.1:p.Ala189Ser | |
| XM_005267881.2:c.13G>T | XP_005267938.1:p.Ala5Ser | |
| XM_011536978.1:c.565G>T | XP_011535280.1:p.Ala189Ser | |
| XM_011536979.1:c.565G>T | XP_011535281.1:p.Ala189Ser | |
| XM_011536980.1:c.565G>T | XP_011535282.1:p.Ala189Ser | |
| XM_011536981.1:c.565G>T | XP_011535283.1:p.Ala189Ser | |
| XM_011536982.1:c.565G>T | XP_011535284.1:p.Ala189Ser | |
| XM_011536983.1:c.1606G>T | XP_011535285.1:p.Ala536Ser | |
| XM_005267881.3:c.13G>T | XP_005267938.1:p.Ala5Ser | |
| XM_017021473.1:c.565G>T | XP_016876962.1:p.Ala189Ser | |
| XM_024449663.1:c.565G>T | XP_024305431.1:p.Ala189Ser | |
| XM_024449664.1:c.565G>T | XP_024305432.1:p.Ala189Ser | |
| XM_024449665.1:c.565G>T | XP_024305433.1:p.Ala189Ser | |
| XM_024449666.1:c.565G>T | XP_024305434.1:p.Ala189Ser | |
| NM_001377523.1:c.565G>T | NP_001364452.1:p.Ala189Ser | |
| NM_001377948.1:c.565G>T | NP_001364877.1:p.Ala189Ser | |
| NM_001377949.1:c.565G>T | NP_001364878.1:p.Ala189Ser | |
| NM_001377950.1:c.565G>T | NP_001364879.1:p.Ala189Ser | |
| NM_001377951.1:c.67G>T | NP_001364880.1:p.Ala23Ser | |
| NM_020366.4:c.1639G>T MANE Select | NP_065099.3:p.Ala547Ser |