Linked Data
dbSNP Id:
rs753419614
ExAC:
2:241813510 C / T
gnomAD v2:
2-241813510-C-T
gnomAD v4:
2-240874093-C-T
COSMIC:
COSN19668827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874093C>T , CM000664.2:g.240874093C>T | GRCh38 |
| NC_000002.11:g.241813510C>T , CM000664.1:g.241813510C>T | GRCh37 |
| NC_000002.10:g.241462183C>T | NCBI36 |
| NG_008005.1:g.10349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.680+31C>T MANE Select | ENSP00000302620.3:n.680+31C>T | |
| ENST00000307503.3:c.680+31C>T | ENSP00000302620.3:n.680+31C>T | |
| ENST00000476698.1:n.333-1016C>T | ||
| NM_000030.2:c.680+31C>T | NP_000021.1:n.680+31C>T | |
| NM_000030.3:c.680+31C>T MANE Select | NP_000021.1:n.680+31C>T |