Linked Data
dbSNP Id:
rs770381077
ExAC:
5:149636193 C / T
gnomAD v2:
5-149636193-C-T
gnomAD v3:
5-150256630-C-T
gnomAD v4:
5-150256630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150256630C>T , CM000667.2:g.150256630C>T | GRCh38 |
| NC_000005.9:g.149636193C>T , CM000667.1:g.149636193C>T | GRCh37 |
| NC_000005.8:g.149616386C>T | NCBI36 |
| NG_047040.1:g.38211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348628.11:c.354G>A | ENSP00000261793.8:p.Gln118= | |
| ENST00000515758.2:n.518G>A | ||
| ENST00000672404.2:n.518G>A | ||
| ENST00000682786.1:c.354G>A | ENSP00000507199.1:p.Gln118= | |
| ENST00000683115.1:n.518G>A | ||
| ENST00000683332.1:c.294G>A | ENSP00000507006.1:p.Gln98= | |
| ENST00000683506.1:c.354G>A | ENSP00000508302.1:p.Gln118= | |
| ENST00000684093.1:n.512G>A | ||
| ENST00000684465.1:n.454G>A | ||
| ENST00000398376.8:c.354G>A | ENSP00000381412.4:p.Gln118= | |
| ENST00000510347.2:c.354G>A | ENSP00000426607.2:p.Gln118= | |
| ENST00000671881.1:c.354G>A MANE Select | ENSP00000500386.1:p.Gln118= | |
| ENST00000672089.1:c.354G>A | ENSP00000500700.1:p.Gln118= | |
| ENST00000672396.1:c.354G>A | ENSP00000499987.1:p.Gln118= | |
| ENST00000672404.1:c.199G>A | ||
| ENST00000672479.1:c.354G>A | ENSP00000500642.1:p.Gln118= | |
| ENST00000672752.1:c.354G>A | ENSP00000499939.1:p.Gln118= | |
| ENST00000672785.1:c.354G>A | ENSP00000500496.1:p.Gln118= | |
| ENST00000672829.1:c.354G>A | ENSP00000500613.1:p.Gln118= | |
| ENST00000348628.10:c.354G>A | ENSP00000261793.8:p.Gln118= | |
| ENST00000398376.7:c.354G>A | ENSP00000381412.3:p.Gln118= | |
| ENST00000508662.5:n.442G>A | ||
| ENST00000515758.1:c.-31G>A | ENSP00000427580.1:n.-31G>A | |
| NM_015981.3:c.354G>A | NP_057065.2:p.Gln118= | |
| NM_171825.2:c.354G>A | NP_741960.1:p.Gln118= | |
| NM_001363989.1:c.354G>A | NP_001350918.1:p.Gln118= | |
| NM_001363990.1:c.354G>A | NP_001350919.1:p.Gln118= | |
| XM_017009898.2:c.354G>A | XP_016865387.1:p.Gln118= | |
| NM_001369025.2:c.354G>A | NP_001355954.1:p.Gln118= | |
| NM_015981.4:c.354G>A MANE Select | NP_057065.2:p.Gln118= | |
| NM_171825.3:c.354G>A | NP_741960.1:p.Gln118= |