Linked Data
ClinVar Variation Id:
8376
dbSNP Id:
rs121909356
ExAC:
8:97157179 G / T
gnomAD v2:
8-97157179-G-T
gnomAD v3:
8-96144951-G-T
gnomAD v4:
8-96144951-G-T
PubMed:
PMID:19129173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144951G>T , CM000670.2:g.96144951G>T | GRCh38 |
| NC_000008.10:g.97157179G>T , CM000670.1:g.97157179G>T | GRCh37 |
| NC_000008.9:g.97226355G>T | NCBI36 |
| NG_008981.1:g.20842C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287020.7:c.980C>A MANE Select | ENSP00000287020.4:p.Pro327His | |
| ENST00000287020.6:c.980C>A | ENSP00000287020.4:p.Pro327His | |
| ENST00000620978.1:c.793+125C>A | ENSP00000480170.1:n.793+125C>A | |
| ENST00000621429.1:c.874+106C>A | ENSP00000483711.1:n.874+106C>A | |
| NM_001001557.2:c.980C>A | NP_001001557.1:p.Pro327His | |
| XM_011517030.1:c.581C>A | XP_011515332.1:p.Pro194His | |
| NM_001001557.3:c.980C>A | NP_001001557.1:p.Pro327His | |
| NM_001001557.4:c.980C>A MANE Select | NP_001001557.1:p.Pro327His |