Linked Data
ClinVar Variation Id:
35505
dbSNP Id:
rs387907218
gnomAD v4:
X-154420676-G-A
COSMIC:
COSM5877445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420676G>A , CM000685.2:g.154420676G>A | GRCh38 |
| NC_000023.10:g.153649015G>A , CM000685.1:g.153649015G>A | GRCh37 |
| NC_000023.9:g.153302209G>A | NCBI36 |
| NG_009634.1:g.14139G>A | |
| NG_009634.2:g.14142G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.1528G>A | ||
| ENST00000698317.1:n.2144G>A | ||
| ENST00000698318.1:n.1927G>A | ||
| ENST00000698319.1:n.1290G>A | ||
| ENST00000698320.1:n.1178G>A | ||
| ENST00000470127.2:n.1191G>A | ||
| ENST00000475699.6:c.682G>A | ENSP00000419854.3:p.Gly228Arg | |
| ENST00000483674.3:n.600G>A | ||
| ENST00000601016.6:c.718G>A MANE Select | ENSP00000469981.1:p.Gly240Arg | |
| ENST00000612012.5:c.676G>A | ENSP00000482070.2:p.Gly226Arg | |
| ENST00000612460.5:c.628G>A | ENSP00000481037.1:p.Gly210Arg | |
| ENST00000614595.2:n.2065G>A | ||
| ENST00000615658.5:n.1307G>A | ||
| ENST00000616020.5:c.730G>A | ENSP00000483636.2:p.Gly244Arg | |
| ENST00000617701.5:c.*731G>A | ENSP00000481645.1:n.*731G>A | |
| ENST00000651139.1:c.-66G>A | ENSP00000498957.1:n.-66G>A | |
| ENST00000652354.1:c.400G>A | ENSP00000498734.1:p.Gly134Arg | |
| ENST00000652358.1:c.511G>A | ENSP00000498464.1:p.Gly171Arg | |
| ENST00000652390.1:c.637G>A | ENSP00000498858.1:p.Gly213Arg | |
| ENST00000652476.1:n.1384G>A | ||
| ENST00000652644.1:c.331G>A | ENSP00000498496.1:p.Gly111Arg | |
| ENST00000652682.1:c.775G>A | ENSP00000498288.1:p.Gly259Arg | |
| ENST00000652685.1:n.1071G>A | ||
| ENST00000369776.8:c.628G>A | ENSP00000358791.4:p.Gly210Arg | |
| ENST00000426231.5:c.715G>A | ||
| ENST00000475699.5:c.676G>A | ENSP00000419854.2:p.Gly226Arg | |
| ENST00000494912.5:n.1407G>A | ||
| ENST00000498029.1:n.176G>A | ||
| ENST00000601016.5:c.718G>A | ENSP00000469981.1:p.Gly240Arg | |
| ENST00000612460.4:c.628G>A | ENSP00000481037.1:p.Gly210Arg | |
| ENST00000613002.4:c.586G>A | ENSP00000478154.1:p.Gly196Arg | |
| ENST00000615986.4:c.*446G>A | ENSP00000480133.1:n.*446G>A | |
| NM_000116.4:c.718G>A | NP_000107.1:p.Gly240Arg | |
| NM_001303465.1:c.730G>A | NP_001290394.1:p.Gly244Arg | |
| NM_181311.3:c.628G>A | NP_851828.1:p.Gly210Arg | |
| NM_181312.3:c.676G>A | NP_851829.1:p.Gly226Arg | |
| NM_181313.3:c.586G>A | NP_851830.1:p.Gly196Arg | |
| NR_024048.2:n.1060G>A | ||
| XM_006724836.1:c.772G>A | XP_006724899.1:p.Gly258Arg | |
| XM_006724837.1:c.757G>A | XP_006724900.1:p.Gly253Arg | |
| XM_006724839.1:c.640G>A | XP_006724902.1:p.Gly214Arg | |
| XM_006724841.2:c.511G>A | XP_006724904.1:p.Gly171Arg | |
| XM_006724842.2:c.421G>A | XP_006724905.1:p.Gly141Arg | |
| XM_011531189.1:c.559G>A | XP_011529491.1:p.Gly187Arg | |
| XM_011531190.1:c.511G>A | XP_011529492.1:p.Gly171Arg | |
| XM_011531191.1:c.442G>A | XP_011529493.1:p.Gly148Arg | |
| XM_011531192.1:c.439G>A | XP_011529494.1:p.Gly147Arg | |
| XR_938511.1:n.1066G>A | ||
| XM_006724841.4:c.511G>A | XP_006724904.1:p.Gly171Arg | |
| XM_006724842.4:c.421G>A | XP_006724905.1:p.Gly141Arg | |
| XM_011531191.2:c.442G>A | XP_011529493.1:p.Gly148Arg | |
| XM_017029761.1:c.703G>A | XP_016885250.1:p.Gly235Arg | |
| XM_017029762.1:c.682G>A | XP_016885251.1:p.Gly228Arg | |
| XM_017029763.1:c.505G>A | XP_016885252.1:p.Gly169Arg | |
| XM_017029764.1:c.439G>A | XP_016885253.1:p.Gly147Arg | |
| XM_017029765.2:c.379G>A | XP_016885254.1:p.Gly127Arg | |
| XM_024452431.1:c.676G>A | XP_024308199.1:p.Gly226Arg | |
| NM_000116.5:c.718G>A MANE Select | NP_000107.1:p.Gly240Arg | |
| NM_001303465.2:c.730G>A | NP_001290394.1:p.Gly244Arg | |
| NM_181311.4:c.628G>A | NP_851828.1:p.Gly210Arg | |
| NM_181312.4:c.676G>A | NP_851829.1:p.Gly226Arg | |
| NM_181313.4:c.586G>A | NP_851830.1:p.Gly196Arg | |
| NR_024048.3:n.1039G>A |