Linked Data
ClinVar Variation Id:
2067345
ClinVar RCV Id:
RCV002943956
dbSNP Id:
rs2147698883
gnomAD v4:
19-17843101-G-A
MyVariant Identifiers:
chr19:g.17953910G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843101G>A , CM000681.2:g.17843101G>A | GRCh38 |
| NC_000019.9:g.17953910G>A , CM000681.1:g.17953910G>A | GRCh37 |
| NC_000019.8:g.17814910G>A | NCBI36 |
| NG_007273.1:g.9891C>T , LRG_77:g.9891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.492C>T | ENSP00000513006.1:p.Ser164= | |
| ENST00000458235.7:c.492C>T MANE Select | ENSP00000391676.1:p.Ser164= | |
| ENST00000458235.5:c.492C>T | ENSP00000391676.1:p.Ser164= | |
| ENST00000526008.5:n.592C>T | ||
| ENST00000527031.5:n.582C>T | ||
| ENST00000527670.5:c.492C>T | ENSP00000432511.1:p.Ser164= | |
| ENST00000528293.1:n.507C>T | ||
| ENST00000534444.1:c.492C>T | ENSP00000436421.1:p.Ser164= | |
| NM_000215.3:c.492C>T , LRG_77t1:c.492C>T | NP_000206.2:p.Ser164= | |
| XM_005259896.2:c.621C>T | XP_005259953.1:p.Ser207= | |
| XM_006722745.2:c.492C>T | XP_006722808.1:p.Ser164= | |
| XM_011527990.1:c.621C>T | XP_011526292.1:p.Ser207= | |
| XM_011527991.1:c.621C>T | XP_011526293.1:p.Ser207= | |
| XR_430137.2:n.631C>T | ||
| XM_005259896.3:c.621C>T | XP_005259953.1:p.Ser207= | |
| XM_011527991.2:c.621C>T | XP_011526293.1:p.Ser207= | |
| NM_000215.4:c.492C>T MANE Select | NP_000206.2:p.Ser164= |