Linked Data
ClinVar Variation Id:
2681179
ClinVar RCV Id:
RCV003468704
dbSNP Id:
rs750264224
gnomAD v2:
2-241813421-C-T
gnomAD v3:
2-240874004-C-T
gnomAD v4:
2-240874004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874004C>T , CM000664.2:g.240874004C>T | GRCh38 |
| NC_000002.11:g.241813421C>T , CM000664.1:g.241813421C>T | GRCh37 |
| NC_000002.10:g.241462094C>T | NCBI36 |
| NG_008005.1:g.10260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.622C>T MANE Select | ENSP00000302620.3:p.Gln208Ter | |
| ENST00000307503.3:c.622C>T | ENSP00000302620.3:p.Gln208Ter | |
| ENST00000476698.1:n.332+955C>T | ||
| NM_000030.2:c.622C>T | NP_000021.1:p.Gln208Ter | |
| NM_000030.3:c.622C>T MANE Select | NP_000021.1:p.Gln208Ter |