Linked Data
dbSNP Id:
rs879065119
gnomAD v4:
5-141626126-G-A
MyVariant Identifiers:
chr5:g.141005693G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141626126G>A , CM000667.2:g.141626126G>A | GRCh38 |
| NC_000005.9:g.141005693G>A , CM000667.1:g.141005693G>A | GRCh37 |
| NC_000005.8:g.140985877G>A | NCBI36 |
| NG_029678.1:g.15731C>T | |
| NG_029678.2:g.15731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305264.8:c.921-55C>T MANE Select | ENSP00000302967.3:n.921-55C>T | |
| ENST00000305264.7:c.921-55C>T | ENSP00000302967.3:n.921-55C>T | |
| ENST00000459727.5:n.233+68C>T | ||
| ENST00000467533.5:n.599+68C>T | ||
| ENST00000469550.6:n.994-55C>T | ||
| ENST00000475549.1:n.252-55C>T | ||
| ENST00000486618.1:n.360C>T | ||
| ENST00000491581.5:n.135-55C>T | ||
| ENST00000492407.1:n.767+68C>T | ||
| NM_003883.3:c.921-55C>T | NP_003874.2:n.921-55C>T | |
| XM_011537697.1:c.360-55C>T | XP_011535999.1:n.360-55C>T | |
| XR_944336.1:n.1006-55C>T | ||
| NM_001355039.1:c.921-55C>T | NP_001341968.1:n.921-55C>T | |
| NM_001355040.1:c.462-55C>T | NP_001341969.1:n.462-55C>T | |
| NM_001355041.1:c.360-55C>T | NP_001341970.1:n.360-55C>T | |
| NR_149164.1:n.987-55C>T | ||
| NR_149165.1:n.869-55C>T | ||
| NR_149166.1:n.843+68C>T | ||
| NR_149167.1:n.1011+68C>T | ||
| NR_149168.1:n.1012-55C>T | ||
| NR_149169.1:n.1012-55C>T | ||
| NM_003883.4:c.921-55C>T MANE Select | NP_003874.2:n.921-55C>T | |
| NM_001355039.2:c.921-55C>T | NP_001341968.1:n.921-55C>T | |
| NR_149167.2:n.1004+68C>T | ||
| NM_001355040.2:c.462-55C>T | NP_001341969.1:n.462-55C>T | |
| NM_001355041.2:c.360-55C>T | NP_001341970.1:n.360-55C>T | |
| NR_149164.2:n.980-55C>T | ||
| NR_149165.2:n.862-55C>T | ||
| NR_149166.2:n.836+68C>T | ||
| NR_149168.2:n.1005-55C>T | ||
| NR_149169.2:n.1005-55C>T |