Linked Data
ClinVar Variation Id:
986127
ClinVar RCV Id:
RCV001267379
dbSNP Id:
rs2076192966
MyVariant Identifiers:
chr19:g.54178943T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54178943T>C , CM000681.2:g.54178943T>C | GRCh38 |
| NC_000019.8:g.59374472T>C | NCBI36 |
| NG_033045.2:g.15933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.855-2A>G MANE Select | ENSP00000245615.1:n.855-2A>G | |
| ENST00000245615.5:c.855-2A>G | ENSP00000245615.1:n.855-2A>G | |
| ENST00000338624.10:c.636-2A>G | ENSP00000344377.5:n.636-2A>G | |
| ENST00000391754.5:c.855-2A>G | ENSP00000375634.1:n.855-2A>G | |
| ENST00000431666.6:c.636-2A>G | ENSP00000410503.2:n.636-2A>G | |
| ENST00000437868.5:c.*515-2A>G | ENSP00000404915.1:n.*515-2A>G | |
| ENST00000449249.5:c.350-4512A>G | ENSP00000406794.1:n.350-4512A>G | |
| ENST00000494142.1:n.1848A>G | ||
| NM_001146056.2:c.636-2A>G | NP_001139528.1:n.636-2A>G | |
| NM_001146082.2:c.855-2A>G | NP_001139554.1:n.855-2A>G | |
| NM_001146083.2:c.636-2A>G | NP_001139555.1:n.636-2A>G | |
| NM_024298.4:c.855-2A>G | NP_077274.3:n.855-2A>G | |
| XM_011527299.1:c.855-2A>G | XP_011525601.1:n.855-2A>G | |
| XM_011527300.1:c.855-2A>G | XP_011525602.1:n.855-2A>G | |
| XM_011527299.3:c.855-2A>G | XP_011525601.1:n.855-2A>G | |
| XM_011527300.2:c.855-2A>G | XP_011525602.1:n.855-2A>G | |
| XM_017027296.2:c.855-2A>G | XP_016882785.1:n.855-2A>G | |
| NM_024298.5:c.855-2A>G MANE Select | NP_077274.3:n.855-2A>G | |
| NM_001146056.3:c.636-2A>G | NP_001139528.1:n.636-2A>G | |
| NM_001146082.3:c.855-2A>G | NP_001139554.1:n.855-2A>G | |
| NM_001146083.3:c.636-2A>G | NP_001139555.1:n.636-2A>G |