Linked Data
ClinVar Variation Id:
330023
ClinVar RCV Id:
RCV000287722
dbSNP Id:
rs866055657
gnomAD v3:
19-53805464-G-A
gnomAD v4:
19-53805464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53805464G>A , CM000681.2:g.53805464G>A | GRCh38 |
| NC_000019.9:g.54308718G>A , CM000681.1:g.54308718G>A | GRCh37 |
| NC_000019.8:g.59000530G>A | NCBI36 |
| NG_008651.1:g.23931C>T | |
| NG_008651.2:g.23931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.2247-14C>T | ENSP00000375653.1:n.2247-14C>T | |
| ENST00000324134.11:c.2244-14C>T MANE Select | ENSP00000319377.6:n.2244-14C>T | |
| ENST00000391773.6:c.2247-14C>T | ENSP00000375653.1:n.2247-14C>T | |
| ENST00000324134.10:c.2244-14C>T | ENSP00000319377.6:n.2244-14C>T | |
| ENST00000345770.9:c.2247-14C>T | ENSP00000341428.5:n.2247-14C>T | |
| ENST00000391772.1:c.2247-14C>T | ENSP00000375652.1:n.2247-14C>T | |
| ENST00000391773.5:c.2247-14C>T | ENSP00000375653.1:n.2247-14C>T | |
| ENST00000391775.7:c.2244-14C>T | ENSP00000375655.3:n.2244-14C>T | |
| ENST00000492915.1:n.1402-14C>T | ||
| NM_001277126.1:c.2247-14C>T | NP_001264055.1:n.2247-14C>T | |
| NM_001277129.1:c.2244-14C>T | NP_001264058.1:n.2244-14C>T | |
| NM_144687.3:c.2244-14C>T | NP_653288.1:n.2244-14C>T | |
| XM_011527478.1:c.2079-14C>T | XP_011525780.1:n.2079-14C>T | |
| XM_011527479.1:c.2247-14C>T | XP_011525781.1:n.2247-14C>T | |
| XM_011527480.1:c.2247-14C>T | XP_011525782.1:n.2247-14C>T | |
| XM_011527481.1:c.2247-14C>T | XP_011525783.1:n.2247-14C>T | |
| XM_011527482.1:c.2247-14C>T | XP_011525784.1:n.2247-14C>T | |
| XM_011527483.1:c.2073-4067C>T | XP_011525785.1:n.2073-4067C>T | |
| XM_017027460.1:c.2247-14C>T | XP_016882949.1:n.2247-14C>T | |
| XM_017027461.1:c.2247-14C>T | XP_016882950.1:n.2247-14C>T | |
| XM_017027462.1:c.2073-14C>T | XP_016882951.1:n.2073-14C>T | |
| XM_017027463.1:c.1830-14C>T | XP_016882952.1:n.1830-14C>T | |
| XM_017027464.1:c.1830-14C>T | XP_016882953.1:n.1830-14C>T | |
| XM_017027465.1:c.1830-14C>T | XP_016882954.1:n.1830-14C>T | |
| XM_017027466.1:c.1830-14C>T | XP_016882955.1:n.1830-14C>T | |
| XM_017027467.1:c.1830-14C>T | XP_016882956.1:n.1830-14C>T | |
| NM_001277126.2:c.2247-14C>T | NP_001264055.1:n.2247-14C>T | |
| NM_144687.4:c.2244-14C>T MANE Select | NP_653288.1:n.2244-14C>T |