Linked Data
ClinVar Variation Id:
2610941
ClinVar RCV Id:
RCV004351703
dbSNP Id:
rs758581464
ExAC:
2:224462781 T / C
gnomAD v2:
2-224462781-T-C
gnomAD v3:
2-223598063-T-C
gnomAD v4:
2-223598063-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223598063T>C , CM000664.2:g.223598063T>C | GRCh38 |
| NC_000002.11:g.224462781T>C , CM000664.1:g.224462781T>C | GRCh37 |
| NC_000002.10:g.224171025T>C | NCBI36 |
| NG_027998.1:g.9437A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305409.3:c.1220A>G MANE Select | ENSP00000304133.2:p.Asn407Ser | |
| ENST00000305409.2:c.1220A>G | ENSP00000304133.2:p.Asn407Ser | |
| NM_003469.4:c.1220A>G | NP_003460.2:p.Asn407Ser | |
| NM_003469.5:c.1220A>G MANE Select | NP_003460.2:p.Asn407Ser |