Linked Data
dbSNP Id:
rs17599026
ExAC:
5:137763798 C / T
gnomAD v2:
5-137763798-C-T
gnomAD v3:
5-138428109-C-T
gnomAD v4:
5-138428109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138428109C>T , CM000667.2:g.138428109C>T | GRCh38 |
| NC_000005.9:g.137763798C>T , CM000667.1:g.137763798C>T | GRCh37 |
| NC_000005.8:g.137791697C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314358.10:c.4753+23C>T MANE Select | ENSP00000326563.5:n.4753+23C>T | |
| ENST00000314358.9:c.4753+23C>T | ENSP00000326563.5:n.4753+23C>T | |
| ENST00000507996.5:c.2169+23C>T | ENSP00000423012.1:n.2169+23C>T | |
| ENST00000510866.5:c.4463+23C>T | ENSP00000425186.1:n.4463+23C>T | |
| ENST00000542866.2:c.1747+23C>T | ENSP00000439462.2:n.1747+23C>T | |
| NM_016604.3:c.4753+23C>T | NP_057688.2:n.4753+23C>T | |
| XM_005272018.3:c.4153+23C>T | XP_005272075.1:n.4153+23C>T | |
| XM_011543488.1:c.4621+23C>T | XP_011541790.1:n.4621+23C>T | |
| XM_011543489.1:c.4609+23C>T | XP_011541791.1:n.4609+23C>T | |
| XM_005272018.4:c.4153+23C>T | XP_005272075.1:n.4153+23C>T | |
| XM_011543488.2:c.4621+23C>T | XP_011541790.1:n.4621+23C>T | |
| XM_011543489.2:c.4609+23C>T | XP_011541791.1:n.4609+23C>T | |
| XM_017009584.1:c.4006+23C>T | XP_016865073.1:n.4006+23C>T | |
| XM_024446115.1:c.4279+23C>T | XP_024301883.1:n.4279+23C>T | |
| NM_016604.4:c.4753+23C>T MANE Select | NP_057688.3:n.4753+23C>T |