Linked Data
ClinVar Variation Id:
220821
ClinVar RCV Id:
RCV000203755
dbSNP Id:
rs864622663
gnomAD v2:
5-148427493-G-A
gnomAD v3:
5-149047930-G-A
gnomAD v4:
5-149047930-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149047930G>A , CM000667.2:g.149047930G>A | GRCh38 |
| NC_000005.9:g.148427493G>A , CM000667.1:g.148427493G>A | GRCh37 |
| NC_000005.8:g.148407686G>A | NCBI36 |
| NG_007947.2:g.20245C>T , LRG_269:g.20245C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.159C>T | ||
| ENST00000515425.6:c.211C>T MANE Select | ENSP00000423660.1:p.Gln71Ter | |
| ENST00000674983.1:c.211C>T | ENSP00000502387.1:p.Gln71Ter | |
| ENST00000675793.1:c.211C>T | ENSP00000502039.1:p.Gln71Ter | |
| ENST00000676056.1:c.211C>T | ENSP00000501827.1:p.Gln71Ter | |
| ENST00000323829.9:c.211C>T | ENSP00000313025.5:p.Gln71Ter | |
| ENST00000504091.1:n.247C>T | ||
| ENST00000504690.5:c.211C>T | ENSP00000425627.1:p.Gln71Ter | |
| ENST00000511307.5:c.211C>T | ENSP00000421420.1:p.Gln71Ter | |
| ENST00000511949.5:n.281C>T | ||
| ENST00000512049.5:c.211C>T | ENSP00000421860.1:p.Gln71Ter | |
| ENST00000513604.5:c.211C>T | ENSP00000423111.1:p.Gln71Ter | |
| ENST00000515425.5:c.211C>T | ENSP00000423660.1:p.Gln71Ter | |
| NM_024577.3:c.211C>T , LRG_269t1:c.211C>T | NP_078853.2:p.Gln71Ter | |
| NM_024577.4:c.211C>T MANE Select | NP_078853.2:p.Gln71Ter |