Linked Data
ClinVar Variation Id:
2904314
ClinVar RCV Id:
RCV003729255
dbSNP Id:
rs202108064
gnomAD v2:
2-241808637-C-G
gnomAD v4:
2-240869220-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869220C>G , CM000664.2:g.240869220C>G | GRCh38 |
| NC_000002.11:g.241808637C>G , CM000664.1:g.241808637C>G | GRCh37 |
| NC_000002.10:g.241457310C>G | NCBI36 |
| NG_008005.1:g.5476C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.216C>G MANE Select | ENSP00000302620.3:p.Asn72Lys | |
| ENST00000307503.3:c.216C>G | ENSP00000302620.3:p.Asn72Lys | |
| ENST00000472436.1:n.236C>G | ||
| NM_000030.2:c.216C>G | NP_000021.1:p.Asn72Lys | |
| XR_924060.1:n.405+1013G>C | ||
| NM_000030.3:c.216C>G MANE Select | NP_000021.1:p.Asn72Lys |