Linked Data
dbSNP Id:
rs147377504
ExAC:
4:184210590 A / G
gnomAD v2:
4-184210590-A-G
gnomAD v3:
4-183289437-A-G
gnomAD v4:
4-183289437-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289437A>G , CM000666.2:g.183289437A>G | GRCh38 |
| NC_000004.11:g.184210590A>G , CM000666.1:g.184210590A>G | GRCh37 |
| NC_000004.10:g.184447584A>G | NCBI36 |
| NG_051586.1:g.195803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3186A>G MANE Select | ENSP00000384222.3:p.Pro1062= | |
| ENST00000403733.7:c.3186A>G | ENSP00000384222.3:p.Pro1062= | |
| ENST00000427431.5:c.*2578A>G | ENSP00000393342.1:n.*2578A>G | |
| ENST00000438543.5:c.*982A>G | ENSP00000413521.1:n.*982A>G | |
| ENST00000448232.6:c.3258A>G | ENSP00000398577.2:p.Pro1086= | |
| ENST00000504005.5:c.2232A>G | ENSP00000427569.1:p.Pro744= | |
| ENST00000508747.1:c.570A>G | ENSP00000420835.1:p.Pro190= | |
| ENST00000513834.5:c.3039A>G | ENSP00000425054.1:p.Pro1013= | |
| NM_024949.5:c.3186A>G | NP_079225.5:p.Pro1062= | |
| XM_011532269.1:c.3258A>G | XP_011530571.1:p.Pro1086= | |
| XM_011532269.3:c.3258A>G | XP_011530571.1:p.Pro1086= | |
| XM_024454225.1:c.2964A>G | XP_024309993.1:p.Pro988= | |
| NM_024949.6:c.3186A>G MANE Select | NP_079225.5:p.Pro1062= |