Linked Data
ClinVar Variation Id:
2961928
ClinVar RCV Id:
RCV003822574
MyVariant Identifiers:
chr19:g.17941363G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830554G>A , CM000681.2:g.17830554G>A | GRCh38 |
| NC_000019.9:g.17941363G>A , CM000681.1:g.17941363G>A | GRCh37 |
| NC_000019.8:g.17802363G>A | NCBI36 |
| NG_007273.1:g.22438C>T , LRG_77:g.22438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1602C>T | ENSP00000513006.1:n.*1602C>T | |
| ENST00000696967.1:n.2222C>T | ||
| ENST00000696968.1:n.278C>T | ||
| ENST00000696969.1:n.2002C>T | ||
| ENST00000458235.7:c.3045C>T MANE Select | ENSP00000391676.1:p.Val1015= | |
| ENST00000458235.5:c.3045C>T | ENSP00000391676.1:p.Val1015= | |
| ENST00000527031.5:n.2279-5244C>T | ||
| ENST00000527670.5:c.3045C>T | ENSP00000432511.1:p.Val1015= | |
| ENST00000534444.1:c.3045C>T | ENSP00000436421.1:p.Val1015= | |
| NM_000215.3:c.3045C>T , LRG_77t1:c.3045C>T | NP_000206.2:p.Val1015= | |
| XM_005259896.2:c.3174C>T | XP_005259953.1:p.Val1058= | |
| XM_006722745.2:c.3045C>T | XP_006722808.1:p.Val1015= | |
| XM_005259896.3:c.3174C>T | XP_005259953.1:p.Val1058= | |
| NM_000215.4:c.3045C>T MANE Select | NP_000206.2:p.Val1015= |