Linked Data
ClinVar Variation Id:
2650425
ClinVar RCV Id:
RCV003415413
dbSNP Id:
rs372916774
gnomAD v3:
19-54180871-G-A
gnomAD v4:
19-54180871-G-A
MyVariant Identifiers:
chr19:g.54180871G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54180871G>A , CM000681.2:g.54180871G>A | GRCh38 |
| NC_000019.8:g.59376400G>A | NCBI36 |
| NG_033045.2:g.14005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.756C>T MANE Select | ENSP00000245615.1:p.Ala252= | |
| ENST00000245615.5:c.756C>T | ENSP00000245615.1:p.Ala252= | |
| ENST00000338624.10:c.537C>T | ENSP00000344377.5:p.Ala179= | |
| ENST00000391754.5:c.756C>T | ENSP00000375634.1:p.Ala252= | |
| ENST00000414665.5:c.756C>T | ENSP00000388250.1:p.Ala252= | |
| ENST00000431666.6:c.537C>T | ENSP00000410503.2:p.Ala179= | |
| ENST00000437868.5:c.*416C>T | ENSP00000404915.1:n.*416C>T | |
| ENST00000449249.5:c.349+2650C>T | ENSP00000406794.1:n.349+2650C>T | |
| ENST00000495279.2:c.377C>T | ||
| NM_001146056.2:c.537C>T | NP_001139528.1:p.Ala179= | |
| NM_001146082.2:c.756C>T | NP_001139554.1:p.Ala252= | |
| NM_001146083.2:c.537C>T | NP_001139555.1:p.Ala179= | |
| NM_024298.4:c.756C>T | NP_077274.3:p.Ala252= | |
| XM_011527299.1:c.756C>T | XP_011525601.1:p.Ala252= | |
| XM_011527300.1:c.756C>T | XP_011525602.1:p.Ala252= | |
| XM_011527299.3:c.756C>T | XP_011525601.1:p.Ala252= | |
| XM_011527300.2:c.756C>T | XP_011525602.1:p.Ala252= | |
| XM_017027296.2:c.756C>T | XP_016882785.1:p.Ala252= | |
| NM_024298.5:c.756C>T MANE Select | NP_077274.3:p.Ala252= | |
| NM_001146056.3:c.537C>T | NP_001139528.1:p.Ala179= | |
| NM_001146082.3:c.756C>T | NP_001139554.1:p.Ala252= | |
| NM_001146083.3:c.537C>T | NP_001139555.1:p.Ala179= |