Linked Data
ClinVar Variation Id:
884320
ClinVar RCV Id:
RCV001115333
dbSNP Id:
rs2041317218
gnomAD v4:
15-80180150-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180150G>T , CM000677.2:g.80180150G>T | GRCh38 |
| NC_000015.9:g.80472492G>T , CM000677.1:g.80472492G>T | GRCh37 |
| NC_000015.8:g.78259547G>T | NCBI36 |
| NG_012833.1:g.32152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1076G>T | ||
| ENST00000561421.6:c.987G>T MANE Select | ENSP00000453347.2:p.Gln329His | |
| ENST00000646551.1:n.2601G>T | ||
| ENST00000261755.9:c.987G>T | ENSP00000261755.5:p.Gln329His | |
| ENST00000407106.5:c.987G>T | ENSP00000385080.1:p.Gln329His | |
| ENST00000539156.5:c.777G>T | ENSP00000454271.1:p.Gln259His | |
| ENST00000559217.1:n.204G>T | ||
| ENST00000561353.2:c.85G>T | ||
| ENST00000561421.5:c.987G>T | ENSP00000453347.1:p.Gln329His | |
| NM_000137.2:c.987G>T | NP_000128.1:p.Gln329His | |
| XM_024449872.1:c.987G>T | XP_024305640.1:p.Gln329His | |
| NM_000137.4:c.987G>T MANE Select | NP_000128.1:p.Gln329His | |
| NM_001374377.1:c.987G>T | NP_001361306.1:p.Gln329His | |
| NM_001374380.1:c.987G>T | NP_001361309.1:p.Gln329His |