Linked Data
dbSNP Id:
rs259127
gnomAD v2:
5-79058642-A-T
gnomAD v3:
5-79762819-A-T
gnomAD v4:
5-79762819-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79762819A>T , CM000667.2:g.79762819A>T | GRCh38 |
| NC_000005.9:g.79058642A>T , CM000667.1:g.79058642A>T | GRCh37 |
| NC_000005.8:g.79094398A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446378.3:c.11408-243A>T MANE Select | ENSP00000394770.2:n.11408-243A>T | |
| ENST00000446378.2:c.11408-243A>T | ENSP00000394770.2:n.11408-243A>T | |
| ENST00000505466.1:n.298-243A>T | ||
| ENST00000506603.5:n.2893A>T | ||
| NM_153610.4:c.11408-243A>T | NP_705838.3:n.11408-243A>T | |
| XR_948242.1:n.11457-243A>T | ||
| XM_017009212.1:c.11192-243A>T | XP_016864701.1:n.11192-243A>T | |
| XR_001742036.2:n.12282+188A>T | ||
| XR_948242.2:n.11586-243A>T | ||
| NM_153610.5:c.11408-243A>T MANE Select | NP_705838.3:n.11408-243A>T |