Linked Data
ClinVar Variation Id:
2803334
ClinVar RCV Id:
RCV003679462
dbSNP Id:
rs1471752372
gnomAD v2:
19-45855925-G-A
gnomAD v4:
19-45352667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352667G>A , CM000681.2:g.45352667G>A | GRCh38 |
| NC_000019.9:g.45855925G>A , CM000681.1:g.45855925G>A | GRCh37 |
| NC_000019.8:g.50547765G>A | NCBI36 |
| NG_007067.2:g.22921C>T , LRG_461:g.22921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1903-18C>T | ENSP00000375808.4:n.1903-18C>T | |
| ENST00000682414.1:c.1903-18C>T | ENSP00000507019.1:n.1903-18C>T | |
| ENST00000682508.1:n.1932-18C>T | ||
| ENST00000684218.1:c.*1161-18C>T | ENSP00000507804.1:n.*1161-18C>T | |
| ENST00000684264.1:n.1459-18C>T | ||
| ENST00000684407.1:c.1780-18C>T | ENSP00000507775.1:n.1780-18C>T | |
| ENST00000684458.1:c.*389-18C>T | ENSP00000508260.1:n.*389-18C>T | |
| ENST00000684468.1:n.1615-18C>T | ||
| ENST00000391945.10:c.1903-18C>T MANE Select | ENSP00000375809.4:n.1903-18C>T | |
| ENST00000646507.1:n.2000-18C>T | ||
| ENST00000391941.6:c.1831-18C>T | ENSP00000375805.2:n.1831-18C>T | |
| ENST00000391942.6:n.1074-18C>T | ||
| ENST00000391944.7:c.1669-18C>T | ENSP00000375808.3:n.1669-18C>T | |
| ENST00000391945.8:c.1903-18C>T | ENSP00000375809.3:n.1903-18C>T | |
| ENST00000588652.5:n.1991-18C>T | ||
| NM_000400.3:c.1903-18C>T , LRG_461t1:c.1903-18C>T | NP_000391.1:n.1903-18C>T | |
| XM_011526611.1:c.1825-18C>T | XP_011524913.1:n.1825-18C>T | |
| XM_011526611.2:c.1825-18C>T | XP_011524913.1:n.1825-18C>T | |
| XM_017026467.1:c.1780-18C>T | XP_016881956.1:n.1780-18C>T | |
| XR_001753633.2:n.1950-18C>T | ||
| XR_001753634.2:n.1886-18C>T | ||
| NM_000400.4:c.1903-18C>T MANE Select | NP_000391.1:n.1903-18C>T |