Linked Data
dbSNP Id:
rs370224642
ExAC:
5:40965018 C / T
gnomAD v2:
5-40965018-C-T
gnomAD v3:
5-40964916-C-T
gnomAD v4:
5-40964916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964916C>T , CM000667.2:g.40964916C>T | GRCh38 |
| NC_000005.9:g.40965018C>T , CM000667.1:g.40965018C>T | GRCh37 |
| NC_000005.8:g.41000775C>T | NCBI36 |
| NG_011692.1:g.60420C>T , LRG_30:g.60420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.674+43C>T | ||
| ENST00000696333.1:c.1882+43C>T | ENSP00000512566.1:n.1882+43C>T | |
| ENST00000696441.1:c.1882+43C>T | ENSP00000512631.1:n.1882+43C>T | |
| ENST00000706664.1:n.1996+43C>T | ||
| ENST00000706666.1:n.1958+43C>T | ||
| ENST00000706667.1:n.2772+43C>T | ||
| ENST00000706668.1:n.2610+43C>T | ||
| ENST00000313164.10:c.1882+43C>T MANE Select | ENSP00000322061.9:n.1882+43C>T | |
| ENST00000313164.9:c.1882+43C>T | ENSP00000322061.9:n.1882+43C>T | |
| ENST00000486779.1:n.395+43C>T | ||
| NM_000587.2:c.1882+43C>T , LRG_30t1:c.1882+43C>T | NP_000578.2:n.1882+43C>T | |
| XM_011514122.1:c.1882+43C>T | XP_011512424.1:n.1882+43C>T | |
| NM_000587.3:c.1882+43C>T | NP_000578.2:n.1882+43C>T | |
| NM_000587.4:c.1882+43C>T MANE Select | NP_000578.2:n.1882+43C>T |