Linked Data
ClinVar Variation Id:
988228
ClinVar RCV Id:
RCV001328255
dbSNP Id:
rs557010306
ExAC:
1:204131175 G / T
gnomAD v2:
1-204131175-G-T
gnomAD v3:
1-204162047-G-T
gnomAD v4:
1-204162047-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162047G>T , CM000663.2:g.204162047G>T | GRCh38 |
| NC_000001.10:g.204131175G>T , CM000663.1:g.204131175G>T | GRCh37 |
| NC_000001.9:g.202397798G>T | NCBI36 |
| NG_012122.1:g.9291C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.215C>A MANE Select | ENSP00000272190.8:p.Thr72Asn | |
| ENST00000638118.1:c.101C>A | ENSP00000490307.1:p.Thr34Asn | |
| ENST00000272190.8:c.215C>A | ENSP00000272190.8:p.Thr72Asn | |
| NM_000537.3:c.215C>A | NP_000528.1:p.Thr72Asn | |
| NM_000537.4:c.215C>A MANE Select | NP_000528.1:p.Thr72Asn |