Linked Data
dbSNP Id:
rs17608902
gnomAD v2:
5-127716567-C-A
gnomAD v3:
5-128380874-C-A
gnomAD v4:
5-128380874-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128380874C>A , CM000667.2:g.128380874C>A | GRCh38 |
| NC_000005.9:g.127716567C>A , CM000667.1:g.127716567C>A | GRCh37 |
| NC_000005.8:g.127744466C>A | NCBI36 |
| NG_008750.1:g.162169G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.1604-1984G>T MANE Select | ENSP00000262464.4:n.1604-1984G>T | |
| ENST00000262464.8:c.1604-1984G>T | ENSP00000262464.4:n.1604-1984G>T | |
| ENST00000508053.5:c.1604-1984G>T | ENSP00000424571.1:n.1604-1984G>T | |
| ENST00000508989.5:c.1505-1984G>T | ENSP00000425596.1:n.1505-1984G>T | |
| ENST00000619499.4:c.1601-1984G>T | ENSP00000482132.1:n.1601-1984G>T | |
| NM_001999.3:c.1604-1984G>T | NP_001990.2:n.1604-1984G>T | |
| XM_017009228.2:c.1451-1984G>T | XP_016864717.1:n.1451-1984G>T | |
| NM_001999.4:c.1604-1984G>T MANE Select | NP_001990.2:n.1604-1984G>T |