Linked Data
dbSNP Id:
rs996448640
gnomAD v2:
5-127636236-C-T
gnomAD v3:
5-128300544-C-T
gnomAD v4:
5-128300544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300544C>T , CM000667.2:g.128300544C>T | GRCh38 |
| NC_000005.9:g.127636236C>T , CM000667.1:g.127636236C>T | GRCh37 |
| NC_000005.8:g.127664135C>T | NCBI36 |
| NG_008750.1:g.242500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2950+273G>A | ||
| ENST00000703785.1:n.2869+273G>A | ||
| ENST00000262464.9:c.6166+273G>A MANE Select | ENSP00000262464.4:n.6166+273G>A | |
| ENST00000262464.8:c.6166+273G>A | ENSP00000262464.4:n.6166+273G>A | |
| ENST00000508053.5:c.6166+273G>A | ENSP00000424571.1:n.6166+273G>A | |
| ENST00000619499.4:c.6163+273G>A | ENSP00000482132.1:n.6163+273G>A | |
| NM_001999.3:c.6166+273G>A | NP_001990.2:n.6166+273G>A | |
| XM_017009228.2:c.6013+273G>A | XP_016864717.1:n.6013+273G>A | |
| NM_001999.4:c.6166+273G>A MANE Select | NP_001990.2:n.6166+273G>A |