Linked Data
dbSNP Id:
rs770468392
ExAC:
5:147510785 C / T
gnomAD v2:
5-147510785-C-T
gnomAD v3:
5-148131222-C-T
gnomAD v4:
5-148131222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131222C>T , CM000667.2:g.148131222C>T | GRCh38 |
| NC_000005.9:g.147510785C>T , CM000667.1:g.147510785C>T | GRCh37 |
| NC_000005.8:g.147490978C>T | NCBI36 |
| NG_009633.1:g.72251C>T , LRG_110:g.72251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2965-37C>T MANE Select | ENSP00000256084.7:n.2965-37C>T | |
| ENST00000256084.7:c.2965-37C>T | ENSP00000256084.7:n.2965-37C>T | |
| ENST00000359874.7:c.3055-37C>T | ENSP00000352936.3:n.3055-37C>T | |
| NM_001127698.1:c.3055-37C>T | NP_001121170.1:n.3055-37C>T | |
| NM_006846.3:c.2965-37C>T , LRG_110t1:c.2965-37C>T | NP_006837.2:n.2965-37C>T | |
| XM_011537550.1:c.2998-37C>T | XP_011535852.1:n.2998-37C>T | |
| XM_011537551.1:c.2971-37C>T | XP_011535853.1:n.2971-37C>T | |
| XM_011537551.2:c.2971-37C>T | XP_011535853.1:n.2971-37C>T | |
| NM_001127698.2:c.3055-37C>T | NP_001121170.1:n.3055-37C>T | |
| NM_006846.4:c.2965-37C>T MANE Select | NP_006837.2:n.2965-37C>T |