Linked Data
ClinVar Variation Id:
2998953
ClinVar RCV Id:
RCV003859600
dbSNP Id:
rs367661539
ExAC:
14:91738996 G / A
gnomAD v2:
14-91738996-G-A
gnomAD v3:
14-91272652-G-A
gnomAD v4:
14-91272652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272652G>A , CM000676.2:g.91272652G>A | GRCh38 |
| NC_000014.8:g.91738996G>A , CM000676.1:g.91738996G>A | GRCh37 |
| NC_000014.7:g.90808749G>A | NCBI36 |
| NG_033118.1:g.150193C>T | |
| NG_033118.2:g.150193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6060C>T MANE Select | ENSP00000374507.6:p.Thr2020= | |
| ENST00000331194.8:c.1494C>T | ENSP00000330332.8:p.Thr498= | |
| ENST00000389857.10:c.6060C>T | ENSP00000374507.6:p.Thr2020= | |
| ENST00000556726.5:c.2288C>T | ||
| NM_001080414.3:c.6060C>T | NP_001073883.2:p.Thr2020= | |
| XM_011536796.1:c.5952C>T | XP_011535098.1:p.Thr1984= | |
| XM_011536796.2:c.5952C>T | XP_011535098.1:p.Thr1984= | |
| XM_017021336.1:c.3141C>T | XP_016876825.1:p.Thr1047= | |
| NM_001080414.4:c.6060C>T MANE Select | NP_001073883.2:p.Thr2020= |