Linked Data
ClinVar Variation Id:
17850
ClinVar RCV Id:
RCV000019430
dbSNP Id:
rs121918393
gnomAD v2:
19-45412013-C-A
gnomAD v3:
19-44908756-C-A
gnomAD v4:
19-44908756-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908756C>A , CM000681.2:g.44908756C>A | GRCh38 |
| NC_000019.9:g.45412013C>A , CM000681.1:g.45412013C>A | GRCh37 |
| NC_000019.8:g.50103853C>A | NCBI36 |
| NG_007084.2:g.7975C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.460C>A MANE Select | ENSP00000252486.3:p.Arg154Ser | |
| ENST00000252486.8:c.460C>A | ENSP00000252486.3:p.Arg154Ser | |
| ENST00000425718.1:c.460C>A | ENSP00000410423.1:p.Arg154Ser | |
| ENST00000434152.5:c.538C>A | ENSP00000413653.2:p.Arg180Ser | |
| ENST00000446996.5:c.460C>A | ENSP00000413135.1:p.Arg154Ser | |
| NM_000041.3:c.460C>A | NP_000032.1:p.Arg154Ser | |
| NM_001302688.1:c.538C>A | NP_001289617.1:p.Arg180Ser | |
| NM_001302689.1:c.460C>A | NP_001289618.1:p.Arg154Ser | |
| NM_001302690.1:c.460C>A | NP_001289619.1:p.Arg154Ser | |
| NM_001302691.1:c.460C>A | NP_001289620.1:p.Arg154Ser | |
| NM_000041.4:c.460C>A MANE Select | NP_000032.1:p.Arg154Ser | |
| NM_001302688.2:c.538C>A | NP_001289617.1:p.Arg180Ser | |
| NM_001302689.2:c.460C>A | NP_001289618.1:p.Arg154Ser | |
| NM_001302691.2:c.460C>A | NP_001289620.1:p.Arg154Ser | |
| NM_001302690.2:c.460C>A | NP_001289619.1:p.Arg154Ser |