MyVariant.info:
GRCh37
chr5:g.67588951C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68293123C>A , CM000667.2:g.68293123C>A | GRCh38 |
| NC_000005.9:g.67588951C>A , CM000667.1:g.67588951C>A | GRCh37 |
| NC_000005.8:g.67624707C>A | NCBI36 |
| NG_012849.2:g.82368C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.142C>A | ENSP00000323512.8:p.Arg48= | |
| ENST00000336483.10:c.232C>A | ENSP00000338554.5:p.Arg78= | |
| ENST00000517643.2:c.1042C>A | ENSP00000513333.1:p.Arg348= | |
| ENST00000517698.6:c.*12C>A | ENSP00000430424.1:n.*12C>A | |
| ENST00000521657.6:c.1042C>A | ENSP00000429277.1:p.Arg348= | |
| ENST00000522084.6:c.232C>A | ENSP00000429766.2:p.Arg78= | |
| ENST00000697457.1:c.967C>A | ENSP00000513315.1:p.Arg323= | |
| ENST00000697458.1:c.1042C>A | ENSP00000513316.1:p.Arg348= | |
| ENST00000697460.1:c.517C>A | ENSP00000513318.1:p.Arg173= | |
| ENST00000697461.1:c.1042C>A | ENSP00000513319.1:p.Arg348= | |
| ENST00000697462.1:c.232C>A | ENSP00000513320.1:p.Arg78= | |
| ENST00000697463.1:n.683C>A | ||
| ENST00000697464.1:c.*8C>A | ENSP00000513322.1:n.*8C>A | |
| ENST00000697465.1:c.79C>A | ENSP00000513323.1:p.Arg27= | |
| ENST00000697466.1:c.49C>A | ENSP00000513324.1:p.Arg17= | |
| ENST00000697467.1:c.-48C>A | ENSP00000513325.1:n.-48C>A | |
| ENST00000697468.1:c.25C>A | ENSP00000513326.1:p.Arg9= | |
| ENST00000697556.1:c.949C>A | ENSP00000513334.1:p.Arg317= | |
| ENST00000697557.1:c.25C>A | ENSP00000513335.1:p.Arg9= | |
| ENST00000521381.6:c.1042C>A MANE Select | ENSP00000428056.1:p.Arg348= | |
| ENST00000320694.12:c.142C>A | ENSP00000323512.8:p.Arg48= | |
| ENST00000336483.9:c.232C>A | ENSP00000338554.5:p.Arg78= | |
| ENST00000517698.5:c.*12C>A | ENSP00000430424.1:n.*12C>A | |
| ENST00000518292.1:n.289C>A | ||
| ENST00000518813.5:n.1585C>A | ||
| ENST00000519025.5:c.61C>A | ENSP00000429156.1:p.Arg21= | |
| ENST00000520550.1:n.441C>A | ||
| ENST00000521381.5:c.1042C>A | ENSP00000428056.1:p.Arg348= | |
| ENST00000521409.5:c.-48C>A | ENSP00000431058.1:n.-48C>A | |
| ENST00000521657.5:c.1042C>A | ENSP00000429277.1:p.Arg348= | |
| ENST00000522084.5:c.232C>A | ENSP00000429766.1:p.Arg78= | |
| ENST00000523807.5:c.232C>A | ENSP00000430126.1:p.Arg78= | |
| ENST00000523872.1:c.-48C>A | ENSP00000430098.1:n.-48C>A | |
| NM_001242466.1:c.-48C>A | NP_001229395.1:n.-48C>A | |
| NM_181504.3:c.232C>A | NP_852556.2:p.Arg78= | |
| NM_181523.2:c.1042C>A | NP_852664.1:p.Arg348= | |
| NM_181524.1:c.142C>A | NP_852665.1:p.Arg48= | |
| XM_005248542.2:c.1042C>A | XP_005248599.1:p.Arg348= | |
| XM_011543493.1:c.715C>A | XP_011541795.1:p.Arg239= | |
| XM_005248542.3:c.1042C>A | XP_005248599.1:p.Arg348= | |
| XM_011543493.3:c.715C>A | XP_011541795.1:p.Arg239= | |
| XM_017009585.2:c.1042C>A | XP_016865074.1:p.Arg348= | |
| XM_017009586.1:c.769C>A | XP_016865075.1:p.Arg257= | |
| NM_181523.3:c.1042C>A MANE Select | NP_852664.1:p.Arg348= | |
| NM_001242466.2:c.-48C>A | NP_001229395.1:n.-48C>A | |
| NM_181504.4:c.232C>A | NP_852556.2:p.Arg78= | |
| NM_181524.2:c.142C>A | NP_852665.1:p.Arg48= |