Linked Data
dbSNP Id:
rs768903564
ExAC:
5:80502767 C / T
gnomAD v2:
5-80502767-C-T
gnomAD v4:
5-81206948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206948C>T , CM000667.2:g.81206948C>T | GRCh38 |
| NC_000005.9:g.80502767C>T , CM000667.1:g.80502767C>T | GRCh37 |
| NC_000005.8:g.80538523C>T | NCBI36 |
| NG_030334.1:g.251260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2967+43C>T MANE Select | ENSP00000265080.4:n.2967+43C>T | |
| ENST00000265080.8:c.2967+43C>T | ENSP00000265080.4:n.2967+43C>T | |
| ENST00000503795.1:c.2967+43C>T | ENSP00000421771.1:n.2967+43C>T | |
| NM_006909.2:c.2967+43C>T | NP_008840.1:n.2967+43C>T | |
| XM_017009682.2:c.2682+43C>T | XP_016865171.1:n.2682+43C>T | |
| XR_002956166.1:n.3083+43C>T | ||
| NM_006909.3:c.2967+43C>T MANE Select | NP_008840.1:n.2967+43C>T |