Linked Data
ClinVar Variation Id:
16059
ClinVar RCV Id:
RCV000017437
dbSNP Id:
rs281864922
ExAC:
4:158058043 G / A
gnomAD v2:
4-158058043-G-A
gnomAD v3:
4-157136891-G-A
gnomAD v4:
4-157136891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157136891G>A , CM000666.2:g.157136891G>A | GRCh38 |
| NC_000004.11:g.158058043G>A , CM000666.1:g.158058043G>A | GRCh37 |
| NC_000004.10:g.158277493G>A | NCBI36 |
| NG_015823.1:g.65767G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264428.9:c.610+5G>A MANE Select | ENSP00000264428.4:n.610+5G>A | |
| ENST00000264428.8:c.610+5G>A | ENSP00000264428.4:n.610+5G>A | |
| ENST00000506411.5:c.*530+5G>A | ENSP00000422039.1:n.*530+5G>A | |
| ENST00000509282.1:c.610+5G>A | ENSP00000427186.1:n.610+5G>A | |
| ENST00000510970.1:n.417+5G>A | ||
| ENST00000512619.5:c.123-33541G>A | ENSP00000425433.1:n.123-33541G>A | |
| ENST00000541722.5:c.610+5G>A | ENSP00000441873.1:n.610+5G>A | |
| NM_000824.4:c.610+5G>A | NP_000815.1:n.610+5G>A | |
| NM_001166060.1:c.610+5G>A | NP_001159532.1:n.610+5G>A | |
| NM_001166061.1:c.610+5G>A | NP_001159533.1:n.610+5G>A | |
| XM_011531876.1:c.316+5G>A | XP_011530178.1:n.316+5G>A | |
| XM_017008034.1:c.316+5G>A | XP_016863523.1:n.316+5G>A | |
| XM_017008035.2:c.610+5G>A | XP_016863524.1:n.610+5G>A | |
| XR_001741207.2:n.791+5G>A | ||
| XR_002959723.1:n.791+5G>A | ||
| NM_000824.5:c.610+5G>A MANE Select | NP_000815.1:n.610+5G>A | |
| NM_001166060.2:c.610+5G>A | NP_001159532.1:n.610+5G>A | |
| NM_001166061.2:c.610+5G>A | NP_001159533.1:n.610+5G>A |