Linked Data
ClinVar Variation Id:
4954
ClinVar RCV Id:
RCV000005242
dbSNP Id:
rs397515358
gnomAD v4:
17-74286974-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74286974T>G , CM000679.2:g.74286974T>G | GRCh38 |
| NC_000017.10:g.72283113T>G , CM000679.1:g.72283113T>G | GRCh37 |
| NC_000017.9:g.69794708T>G | NCBI36 |
| NG_016865.1:g.17728T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311014.11:c.346-3T>G MANE Select | ENSP00000308312.6:n.346-3T>G | |
| ENST00000311014.10:c.346-3T>G | ENSP00000308312.6:n.346-3T>G | |
| ENST00000446837.2:c.346-3T>G | ENSP00000400252.2:n.346-3T>G | |
| ENST00000579055.5:c.345+1773T>G | ENSP00000462767.1:n.345+1773T>G | |
| ENST00000579490.5:c.517-3T>G | ENSP00000464197.1:n.517-3T>G | |
| ENST00000582036.5:c.346-3T>G | ENSP00000461950.1:n.346-3T>G | |
| NM_001172810.1:c.346-3T>G | NP_001166281.1:n.346-3T>G | |
| NM_023036.4:c.346-3T>G | NP_075462.3:n.346-3T>G | |
| XM_011525125.1:c.346-3T>G | XP_011523427.1:n.346-3T>G | |
| XR_429915.2:n.468-3T>G | ||
| XR_429916.2:n.468-3T>G | ||
| XR_934518.1:n.470-3T>G | ||
| XR_934519.1:n.467-3T>G | ||
| XR_934520.1:n.543-3T>G | ||
| XR_934521.1:n.455-3T>G | ||
| XR_934522.1:n.443-3T>G | ||
| XR_934523.1:n.452-3T>G | ||
| XR_934524.1:n.470-3T>G | ||
| XR_934525.1:n.470-3T>G | ||
| XR_934526.1:n.470-3T>G | ||
| XR_934527.1:n.468-3T>G | ||
| XR_934528.1:n.468-3T>G | ||
| XR_934529.1:n.470+1773T>G | ||
| XR_934530.1:n.543+1773T>G | ||
| XR_934531.1:n.469+1773T>G | ||
| NM_001172810.2:c.346-3T>G | NP_001166281.1:n.346-3T>G | |
| NM_001353167.1:c.346-3T>G | NP_001340096.1:n.346-3T>G | |
| NM_023036.5:c.346-3T>G | NP_075462.3:n.346-3T>G | |
| NR_148379.1:n.492+1773T>G | ||
| XM_011525125.2:c.346-3T>G | XP_011523427.1:n.346-3T>G | |
| XM_024450874.1:c.346-3T>G | XP_024306642.1:n.346-3T>G | |
| XM_024450875.1:c.346-3T>G | XP_024306643.1:n.346-3T>G | |
| XM_024450876.1:c.346-3T>G | XP_024306644.1:n.346-3T>G | |
| XM_024450877.1:c.346-3T>G | XP_024306645.1:n.346-3T>G | |
| XM_024450878.1:c.346-3T>G | XP_024306646.1:n.346-3T>G | |
| XM_024450879.1:c.346-3T>G | XP_024306647.1:n.346-3T>G | |
| XM_024450880.1:c.346-3T>G | XP_024306648.1:n.346-3T>G | |
| XM_024450881.1:c.346-3T>G | XP_024306649.1:n.346-3T>G | |
| XM_024450882.1:c.346-3T>G | XP_024306650.1:n.346-3T>G | |
| XM_024450883.1:c.346-3T>G | XP_024306651.1:n.346-3T>G | |
| XM_024450884.1:c.346-3T>G | XP_024306652.1:n.346-3T>G | |
| XM_024450885.1:c.38+1773T>G | XP_024306653.1:n.38+1773T>G | |
| XM_024450886.1:c.38+1773T>G | XP_024306654.1:n.38+1773T>G | |
| NM_023036.6:c.346-3T>G MANE Select | NP_075462.3:n.346-3T>G | |
| NM_001172810.3:c.346-3T>G | NP_001166281.1:n.346-3T>G | |
| NM_001353167.2:c.346-3T>G | NP_001340096.1:n.346-3T>G | |
| NR_148379.2:n.468+1773T>G |