Linked Data
ClinVar Variation Id:
2840825
ClinVar RCV Id:
RCV003742049
dbSNP Id:
rs1252446296
gnomAD v3:
16-9938105-G-T
gnomAD v4:
16-9938105-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9938105G>T , CM000678.2:g.9938105G>T | GRCh38 |
| NC_000016.9:g.10031962G>T , CM000678.1:g.10031962G>T | GRCh37 |
| NC_000016.8:g.9939463G>T | NCBI36 |
| NG_011812.1:g.249650C>A | |
| NG_011812.2:g.249650C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.861C>A MANE Select | ENSP00000332549.3:p.Ser287Arg | |
| ENST00000535259.6:c.390C>A | ENSP00000441572.3:p.Ser130Arg | |
| ENST00000636273.2:n.454C>A | ||
| ENST00000637393.1:c.453C>A | ENSP00000490232.1:p.Ser151Arg | |
| ENST00000674742.1:c.390C>A | ENSP00000502200.1:p.Ser130Arg | |
| ENST00000675189.1:n.1345C>A | ||
| ENST00000675398.1:c.861C>A | ENSP00000502752.1:p.Ser287Arg | |
| ENST00000330684.3:c.861C>A | ENSP00000332549.3:p.Ser287Arg | |
| ENST00000396573.6:c.861C>A | ENSP00000379818.2:p.Ser287Arg | |
| ENST00000396575.6:c.450C>A | ENSP00000379820.3:p.Ser150Arg | |
| ENST00000461292.3:n.500C>A | ||
| ENST00000535259.5:c.450C>A | ENSP00000441572.2:p.Ser150Arg | |
| ENST00000562109.5:c.861C>A | ENSP00000454998.1:p.Ser287Arg | |
| ENST00000566683.1:n.241-47005C>A | ||
| ENST00000568247.3:n.753C>A | ||
| NM_000833.4:c.861C>A | NP_000824.1:p.Ser287Arg | |
| NM_001134407.2:c.861C>A | NP_001127879.1:p.Ser287Arg | |
| NM_001134408.2:c.861C>A | NP_001127880.1:p.Ser287Arg | |
| XM_011522456.1:c.702C>A | XP_011520758.1:p.Ser234Arg | |
| XM_011522457.1:c.603C>A | XP_011520759.1:p.Ser201Arg | |
| XM_011522458.1:c.390C>A | XP_011520760.1:p.Ser130Arg | |
| XM_011522459.1:c.390C>A | XP_011520761.1:p.Ser130Arg | |
| XM_011522460.1:c.390C>A | XP_011520762.1:p.Ser130Arg | |
| XM_011522461.1:c.861C>A | XP_011520763.1:p.Ser287Arg | |
| XM_011522458.3:c.390C>A | XP_011520760.1:p.Ser130Arg | |
| XM_011522461.3:c.861C>A | XP_011520763.1:p.Ser287Arg | |
| XM_017023172.1:c.1017C>A | XP_016878661.1:p.Ser339Arg | |
| XM_017023173.1:c.1017C>A | XP_016878662.1:p.Ser339Arg | |
| NM_001134407.3:c.861C>A MANE Select | NP_001127879.1:p.Ser287Arg | |
| NM_000833.5:c.861C>A | NP_000824.1:p.Ser287Arg |