Linked Data
ClinVar Variation Id:
1516008
ClinVar RCV Id:
RCV002048662
dbSNP Id:
rs776777011
ExAC:
17:72297184 G / C
gnomAD v2:
17-72297184-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74301045G>C , CM000679.2:g.74301045G>C | GRCh38 |
| NC_000017.10:g.72297184G>C , CM000679.1:g.72297184G>C | GRCh37 |
| NC_000017.9:g.69808779G>C | NCBI36 |
| NG_016865.1:g.31799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.865-1G>C MANE Select | ENSP00000308312.6:n.865-1G>C | |
| ENST00000311014.10:c.865-1G>C | ENSP00000308312.6:n.865-1G>C | |
| ENST00000446837.2:c.865-1G>C | ENSP00000400252.2:n.865-1G>C | |
| ENST00000579055.5:c.*236-1G>C | ENSP00000462767.1:n.*236-1G>C | |
| ENST00000579490.5:c.1036-1G>C | ENSP00000464197.1:n.1036-1G>C | |
| ENST00000582036.5:c.865-1G>C | ENSP00000461950.1:n.865-1G>C | |
| NM_001172810.1:c.865-1G>C | NP_001166281.1:n.865-1G>C | |
| NM_023036.4:c.865-1G>C | NP_075462.3:n.865-1G>C | |
| XM_011525125.1:c.865-1G>C | XP_011523427.1:n.865-1G>C | |
| XR_429915.2:n.987-1G>C | ||
| XR_429916.2:n.987-1G>C | ||
| XR_934518.1:n.989-1G>C | ||
| XR_934519.1:n.986-1G>C | ||
| XR_934520.1:n.1062-1G>C | ||
| XR_934521.1:n.974-1G>C | ||
| XR_934522.1:n.962-1G>C | ||
| XR_934523.1:n.971-1G>C | ||
| XR_934524.1:n.989-1G>C | ||
| XR_934525.1:n.989-1G>C | ||
| XR_934526.1:n.875-1G>C | ||
| XR_934527.1:n.987-1G>C | ||
| XR_934528.1:n.987-1G>C | ||
| XR_934529.1:n.868-1G>C | ||
| XR_934530.1:n.941-1G>C | ||
| XR_934531.1:n.867-1G>C | ||
| NM_001172810.2:c.865-1G>C | NP_001166281.1:n.865-1G>C | |
| NM_001353167.1:c.865-1G>C | NP_001340096.1:n.865-1G>C | |
| NM_023036.5:c.865-1G>C | NP_075462.3:n.865-1G>C | |
| NR_148379.1:n.890-1G>C | ||
| XM_011525125.2:c.865-1G>C | XP_011523427.1:n.865-1G>C | |
| XM_024450874.1:c.865-1G>C | XP_024306642.1:n.865-1G>C | |
| XM_024450875.1:c.865-1G>C | XP_024306643.1:n.865-1G>C | |
| XM_024450876.1:c.865-1G>C | XP_024306644.1:n.865-1G>C | |
| XM_024450877.1:c.865-1G>C | XP_024306645.1:n.865-1G>C | |
| XM_024450878.1:c.865-1G>C | XP_024306646.1:n.865-1G>C | |
| XM_024450879.1:c.865-1G>C | XP_024306647.1:n.865-1G>C | |
| XM_024450880.1:c.865-1G>C | XP_024306648.1:n.865-1G>C | |
| XM_024450881.1:c.751-1G>C | XP_024306649.1:n.751-1G>C | |
| XM_024450882.1:c.865-1G>C | XP_024306650.1:n.865-1G>C | |
| XM_024450883.1:c.865-1G>C | XP_024306651.1:n.865-1G>C | |
| XM_024450884.1:c.865-1G>C | XP_024306652.1:n.865-1G>C | |
| XM_024450885.1:c.436-1G>C | XP_024306653.1:n.436-1G>C | |
| XM_024450886.1:c.436-1G>C | XP_024306654.1:n.436-1G>C | |
| NM_023036.6:c.865-1G>C MANE Select | NP_075462.3:n.865-1G>C | |
| NM_001172810.3:c.865-1G>C | NP_001166281.1:n.865-1G>C | |
| NM_001353167.2:c.865-1G>C | NP_001340096.1:n.865-1G>C | |
| NR_148379.2:n.866-1G>C |