Linked Data
ClinVar Variation Id:
2988542
ClinVar RCV Id:
RCV003846709
dbSNP Id:
rs765719483
ExAC:
14:91739047 G / A
gnomAD v2:
14-91739047-G-A
gnomAD v4:
14-91272703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272703G>A , CM000676.2:g.91272703G>A | GRCh38 |
| NC_000014.8:g.91739047G>A , CM000676.1:g.91739047G>A | GRCh37 |
| NC_000014.7:g.90808800G>A | NCBI36 |
| NG_033118.1:g.150142C>T | |
| NG_033118.2:g.150142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6009C>T MANE Select | ENSP00000374507.6:p.Ser2003= | |
| ENST00000331194.8:c.1443C>T | ENSP00000330332.8:p.Ser481= | |
| ENST00000389857.10:c.6009C>T | ENSP00000374507.6:p.Ser2003= | |
| ENST00000556726.5:c.2237C>T | ||
| NM_001080414.3:c.6009C>T | NP_001073883.2:p.Ser2003= | |
| XM_011536796.1:c.5901C>T | XP_011535098.1:p.Ser1967= | |
| XM_011536796.2:c.5901C>T | XP_011535098.1:p.Ser1967= | |
| XM_017021336.1:c.3090C>T | XP_016876825.1:p.Ser1030= | |
| NM_001080414.4:c.6009C>T MANE Select | NP_001073883.2:p.Ser2003= |