Linked Data
ClinVar Variation Id:
268114
ClinVar RCV Id:
RCV000258829
dbSNP Id:
rs886041060
gnomAD v4:
19-54180772-C-G
MyVariant Identifiers:
chr19:g.54180772C>G (hg38)
PubMed:
PMID:27616480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54180772C>G , CM000681.2:g.54180772C>G | GRCh38 |
| NC_000019.8:g.59376301C>G | NCBI36 |
| NG_033045.2:g.14104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.854+1G>C MANE Select | ENSP00000245615.1:n.854+1G>C | |
| ENST00000245615.5:c.854+1G>C | ENSP00000245615.1:n.854+1G>C | |
| ENST00000338624.10:c.635+1G>C | ENSP00000344377.5:n.635+1G>C | |
| ENST00000391754.5:c.854+1G>C | ENSP00000375634.1:n.854+1G>C | |
| ENST00000431666.6:c.635+1G>C | ENSP00000410503.2:n.635+1G>C | |
| ENST00000437868.5:c.*514+1G>C | ENSP00000404915.1:n.*514+1G>C | |
| ENST00000449249.5:c.349+2749G>C | ENSP00000406794.1:n.349+2749G>C | |
| ENST00000494142.1:n.19G>C | ||
| ENST00000495279.2:c.476G>C | ||
| NM_001146056.2:c.635+1G>C | NP_001139528.1:n.635+1G>C | |
| NM_001146082.2:c.854+1G>C | NP_001139554.1:n.854+1G>C | |
| NM_001146083.2:c.635+1G>C | NP_001139555.1:n.635+1G>C | |
| NM_024298.4:c.854+1G>C | NP_077274.3:n.854+1G>C | |
| XM_011527299.1:c.854+1G>C | XP_011525601.1:n.854+1G>C | |
| XM_011527300.1:c.854+1G>C | XP_011525602.1:n.854+1G>C | |
| XM_011527299.3:c.854+1G>C | XP_011525601.1:n.854+1G>C | |
| XM_011527300.2:c.854+1G>C | XP_011525602.1:n.854+1G>C | |
| XM_017027296.2:c.854+1G>C | XP_016882785.1:n.854+1G>C | |
| NM_024298.5:c.854+1G>C MANE Select | NP_077274.3:n.854+1G>C | |
| NM_001146056.3:c.635+1G>C | NP_001139528.1:n.635+1G>C | |
| NM_001146082.3:c.854+1G>C | NP_001139554.1:n.854+1G>C | |
| NM_001146083.3:c.635+1G>C | NP_001139555.1:n.635+1G>C |