Linked Data
ClinVar Variation Id:
545108
ClinVar RCV Id:
RCV000656331
dbSNP Id:
rs1555630396
gnomAD v4:
18-27985134-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.27985134T>C , CM000680.2:g.27985134T>C | GRCh38 |
| NC_000018.9:g.25565098T>C , CM000680.1:g.25565098T>C | GRCh37 |
| NC_000018.8:g.23819096T>C | NCBI36 |
| NG_011959.1:g.197348A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269141.8:c.2075A>G MANE Select | ENSP00000269141.3:p.Asn692Ser | |
| ENST00000413878.2:c.1820A>G | ENSP00000414269.2:p.Asn607Ser | |
| ENST00000430882.6:c.1820A>G | ENSP00000412120.2:p.Asn607Ser | |
| ENST00000675173.1:c.712A>G | ||
| ENST00000675688.1:c.27A>G | ||
| ENST00000675708.1:c.1820A>G | ENSP00000501654.1:p.Asn607Ser | |
| ENST00000676041.1:n.1806A>G | ||
| ENST00000676445.1:c.1820A>G | ENSP00000502206.1:p.Asn607Ser | |
| ENST00000269141.7:c.2075A>G | ENSP00000269141.3:p.Asn692Ser | |
| ENST00000399380.7:c.1982A>G | ENSP00000382312.3:p.Asn661Ser | |
| NM_001308176.1:c.1982A>G | NP_001295105.1:p.Asn661Ser | |
| NM_001792.3:c.2075A>G | NP_001783.2:p.Asn692Ser | |
| NM_001792.4:c.2075A>G | NP_001783.2:p.Asn692Ser | |
| XM_005258181.2:c.2021A>G | XP_005258238.1:p.Asn674Ser | |
| XM_011525787.1:c.2021A>G | XP_011524089.1:p.Asn674Ser | |
| XM_011525788.1:c.1820A>G | XP_011524090.1:p.Asn607Ser | |
| XM_017025514.2:c.2075A>G | XP_016881003.1:p.Asn692Ser | |
| NM_001792.5:c.2075A>G MANE Select | NP_001783.2:p.Asn692Ser | |
| NM_001308176.2:c.1982A>G | NP_001295105.1:p.Asn661Ser |