Linked Data
dbSNP Id:
rs370185320
gnomAD v2:
5-138949305-G-T
gnomAD v3:
5-139569720-G-T
gnomAD v4:
5-139569720-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139569720G>T , CM000667.2:g.139569720G>T | GRCh38 |
| NC_000005.9:g.138949305G>T , CM000667.1:g.138949305G>T | GRCh37 |
| NC_000005.8:g.138929489G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698321.1:c.-162+7313G>T | ENSP00000513666.1:n.-162+7313G>T | |
| ENST00000398733.8:c.24+7905G>T MANE Select | ENSP00000381717.3:n.24+7905G>T | |
| ENST00000398733.7:c.24+7905G>T | ENSP00000381717.3:n.24+7905G>T | |
| ENST00000398734.8:c.24+7905G>T | ENSP00000381718.4:n.24+7905G>T | |
| ENST00000505007.5:c.-64+7313G>T | ENSP00000426523.1:n.-64+7313G>T | |
| ENST00000505548.5:c.-64+7313G>T | ENSP00000424941.1:n.-64+7313G>T | |
| ENST00000510470.1:n.92+7905G>T | ||
| ENST00000511725.5:c.-63-30652G>T | ENSP00000429613.1:n.-63-30652G>T | |
| NM_003339.2:c.24+7905G>T | NP_003330.1:n.24+7905G>T | |
| NM_181838.1:c.-64+7313G>T | NP_862821.1:n.-64+7313G>T | |
| XM_017009820.1:c.-96+7089G>T | XP_016865309.1:n.-96+7089G>T | |
| NM_003339.3:c.24+7905G>T MANE Select | NP_003330.1:n.24+7905G>T | |
| NM_181838.2:c.-64+7313G>T | NP_862821.1:n.-64+7313G>T |