Linked Data
dbSNP Id:
rs1356964167
gnomAD v2:
4-74270103-G-A
gnomAD v3:
4-73404386-G-A
gnomAD v4:
4-73404386-G-A
COSMIC:
COSM1057396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404386G>A , CM000666.2:g.73404386G>A | GRCh38 |
| NC_000004.11:g.74270103G>A , CM000666.1:g.74270103G>A | GRCh37 |
| NC_000004.10:g.74488967G>A | NCBI36 |
| NG_009291.1:g.5132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.59G>A MANE Select | ENSP00000295897.4:p.Gly20Asp | |
| ENST00000295897.8:c.59G>A | ENSP00000295897.4:p.Gly20Asp | |
| ENST00000401494.7:c.59G>A | ENSP00000384695.3:p.Gly20Asp | |
| ENST00000415165.6:c.59G>A | ENSP00000401820.2:p.Gly20Asp | |
| ENST00000441319.5:c.65G>A | ENSP00000392541.1:p.Gly22Asp | |
| ENST00000476441.6:c.59G>A | ENSP00000423727.1:p.Gly20Asp | |
| ENST00000503124.5:c.-122G>A | ENSP00000421027.1:n.-122G>A | |
| ENST00000509063.5:c.59G>A | ENSP00000422784.1:p.Gly20Asp | |
| ENST00000510166.5:n.100G>A | ||
| ENST00000514786.1:n.48+50G>A | ||
| ENST00000515133.5:n.100G>A | ||
| ENST00000621085.4:c.59G>A | ENSP00000483421.1:p.Gly20Asp | |
| ENST00000621628.4:c.59G>A | ENSP00000480485.1:p.Gly20Asp | |
| NM_000477.5:c.59G>A | NP_000468.1:p.Gly20Asp | |
| NM_000477.6:c.59G>A | NP_000468.1:p.Gly20Asp | |
| NM_000477.7:c.59G>A MANE Select | NP_000468.1:p.Gly20Asp |