Linked Data
dbSNP Id:
rs1555859623
gnomAD v2:
19-42474724-C-A
gnomAD v4:
19-41970572-C-A
MyVariant Identifiers:
chr19:g.42474724C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970572C>A , CM000681.2:g.41970572C>A | GRCh38 |
| NC_000019.9:g.42474724C>A , CM000681.1:g.42474724C>A | GRCh37 |
| NC_000019.8:g.47166564C>A | NCBI36 |
| NG_008015.1:g.28659G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2303-30G>T | ENSP00000444688.1:n.2303-30G>T | |
| ENST00000644613.1:c.2264-30G>T | ENSP00000494711.1:n.2264-30G>T | |
| ENST00000648268.1:c.2264-30G>T MANE Select | ENSP00000498113.1:n.2264-30G>T | |
| ENST00000302102.9:c.2264-30G>T | ENSP00000302397.5:n.2264-30G>T | |
| ENST00000441343.5:c.2264-30G>T | ENSP00000411503.1:n.2264-30G>T | |
| ENST00000543770.5:c.2297-30G>T | ENSP00000437577.1:n.2297-30G>T | |
| ENST00000545399.5:c.2303-30G>T | ENSP00000444688.1:n.2303-30G>T | |
| ENST00000602133.5:c.2174-30G>T | ENSP00000471581.1:n.2174-30G>T | |
| NM_001256213.1:c.2297-30G>T | NP_001243142.1:n.2297-30G>T | |
| NM_001256214.1:c.2303-30G>T | NP_001243143.1:n.2303-30G>T | |
| NM_152296.4:c.2264-30G>T | NP_689509.1:n.2264-30G>T | |
| XM_011526991.1:c.2174-30G>T | XP_011525293.1:n.2174-30G>T | |
| NM_152296.5:c.2264-30G>T MANE Select | NP_689509.1:n.2264-30G>T | |
| NM_001256214.2:c.2303-30G>T | NP_001243143.1:n.2303-30G>T | |
| NM_001256213.2:c.2297-30G>T | NP_001243142.1:n.2297-30G>T |