Linked Data
ClinVar Variation Id:
103056
ClinVar RCV Id:
RCV000089316
dbSNP Id:
rs199475723
gnomAD v3:
19-54985957-G-A
gnomAD v4:
19-54985957-G-A
MyVariant Identifiers:
chr19:g.54985957G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54985957G>A , CM000681.2:g.54985957G>A | GRCh38 |
| NC_000019.8:g.60189137G>A | NCBI36 |
| NG_052633.1:g.37828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448584.7:c.2202-194G>A MANE Select | ENSP00000409370.2:n.2202-194G>A | |
| ENST00000263437.10:c.2193-194G>A | ENSP00000263437.6:n.2193-194G>A | |
| ENST00000339757.11:c.2136-194G>A | ENSP00000344074.7:n.2136-194G>A | |
| ENST00000391721.8:c.2130-194G>A | ENSP00000375601.4:n.2130-194G>A | |
| ENST00000427260.6:c.2133-194G>A | ENSP00000402474.2:n.2133-194G>A | |
| ENST00000448584.6:c.2202-194G>A | ENSP00000409370.2:n.2202-194G>A | |
| ENST00000537859.5:c.2136-194G>A | ENSP00000440601.1:n.2136-194G>A | |
| ENST00000540005.1:c.415-194G>A | ||
| ENST00000540597.5:n.2312-194G>A | ||
| ENST00000543010.5:c.2202-194G>A | ENSP00000445135.1:n.2202-194G>A | |
| NM_001174081.1:c.2202-194G>A | NP_001167552.1:n.2202-194G>A | |
| NM_001174082.1:c.2136-194G>A | NP_001167553.1:n.2136-194G>A | |
| NM_001174083.1:c.2133-194G>A | NP_001167554.1:n.2133-194G>A | |
| NM_017852.3:c.2202-194G>A | NP_060322.1:n.2202-194G>A | |
| NM_001174081.2:c.2202-194G>A | NP_001167552.1:n.2202-194G>A | |
| NM_001174082.2:c.2136-194G>A | NP_001167553.1:n.2136-194G>A | |
| NM_001348003.1:c.2193-194G>A | NP_001334932.1:n.2193-194G>A | |
| NM_017852.4:c.2202-194G>A | NP_060322.1:n.2202-194G>A | |
| NR_145325.1:n.2345-194G>A | ||
| NM_017852.5:c.2202-194G>A MANE Select | NP_060322.1:n.2202-194G>A | |
| NM_001174081.3:c.2202-194G>A | NP_001167552.1:n.2202-194G>A | |
| NM_001174083.2:c.2133-194G>A | NP_001167554.1:n.2133-194G>A | |
| NM_001348003.2:c.2193-194G>A | NP_001334932.1:n.2193-194G>A | |
| NR_145325.2:n.2313-194G>A | ||
| NM_001174082.3:c.2136-194G>A | NP_001167553.1:n.2136-194G>A |