Linked Data
ClinVar Variation Id:
3224691
ClinVar RCV Id:
RCV004521381
dbSNP Id:
rs2098027173
gnomAD v3:
7-152648798-C-G
gnomAD v4:
7-152648798-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648798C>G , CM000669.2:g.152648798C>G | GRCh38 |
| NC_000007.13:g.152345883C>G , CM000669.1:g.152345883C>G | GRCh37 |
| NC_000007.12:g.151976816C>G | NCBI36 |
| NG_027988.1:g.32368G>C | |
| NG_027988.2:g.32368G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.519G>C | ENSP00000513758.1:p.Lys173Asn | |
| ENST00000359321.2:c.687G>C MANE Select | ENSP00000352271.1:p.Lys229Asn | |
| ENST00000359321.1:c.687G>C | ENSP00000352271.1:p.Lys229Asn | |
| ENST00000495707.1:n.709G>C | ||
| NM_005431.1:c.687G>C | NP_005422.1:p.Lys229Asn | |
| NM_005431.2:c.687G>C MANE Select | NP_005422.1:p.Lys229Asn |