Linked Data
ClinVar Variation Id:
132878
ClinVar RCV Id:
RCV000119315
dbSNP Id:
rs199475846
ExAC:
19:56249721 G / A
gnomAD v2:
19-56249721-G-A
gnomAD v3:
19-55738355-G-A
gnomAD v4:
19-55738355-G-A
MyVariant Identifiers:
chr19:g.56249721G>A (hg19)
chr19:g.56249721_56249723delinsAAA (hg19)
chr19:g.55738355G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55738355G>A , CM000681.2:g.55738355G>A | GRCh38 |
| NC_000019.9:g.56249721G>A , CM000681.1:g.56249721G>A | GRCh37 |
| NC_000019.8:g.60941533G>A | NCBI36 |
| NG_046901.1:g.12174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332836.7:c.20C>T MANE Select | ENSP00000331857.2:p.Ser7Leu | |
| ENST00000332836.6:c.20C>T | ENSP00000331857.2:p.Ser7Leu | |
| ENST00000590200.1:c.20C>T | ENSP00000465253.1:p.Ser7Leu | |
| NM_176820.3:c.20C>T | NP_789790.2:p.Ser7Leu | |
| XM_011526893.1:c.20C>T | XP_011525195.1:p.Ser7Leu | |
| NM_176820.4:c.20C>T MANE Select | NP_789790.2:p.Ser7Leu |