Linked Data
ClinVar Variation Id:
136375
dbSNP Id:
rs587780850
ExAC:
5:125887767 C / T
gnomAD v2:
5-125887767-C-T
gnomAD v3:
5-126552075-C-T
gnomAD v4:
5-126552075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552075C>T , CM000667.2:g.126552075C>T | GRCh38 |
| NC_000005.9:g.125887767C>T , CM000667.1:g.125887767C>T | GRCh37 |
| NC_000005.8:g.125915666C>T | NCBI36 |
| NG_008600.2:g.48316G>A | |
| NG_008600.3:g.48316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1263G>A MANE Select | ENSP00000387123.3:p.Ala421= | |
| ENST00000458249.6:c.*1172G>A | ENSP00000403929.1:n.*1172G>A | |
| ENST00000497231.7:n.1690G>A | ||
| ENST00000503281.6:c.852G>A | ||
| ENST00000635851.1:c.1261G>A | ||
| ENST00000636062.1:n.1158G>A | ||
| ENST00000636225.1:c.*1207G>A | ENSP00000490797.1:n.*1207G>A | |
| ENST00000636286.1:n.981G>A | ||
| ENST00000636482.1:n.750G>A | ||
| ENST00000636743.1:c.1143G>A | ENSP00000489725.1:p.Ala381= | |
| ENST00000636808.1:c.*1072G>A | ENSP00000490833.1:n.*1072G>A | |
| ENST00000636872.1:c.1423G>A | ENSP00000490919.1:n.1423G>A | |
| ENST00000636879.1:c.1308G>A | ENSP00000490811.1:p.Ala436= | |
| ENST00000636886.1:c.1062G>A | ENSP00000490371.1:p.Ala354= | |
| ENST00000637206.1:c.1083G>A | ENSP00000489895.1:p.Ala361= | |
| ENST00000637272.1:c.1254G>A | ENSP00000489686.1:p.Ala418= | |
| ENST00000637292.1:c.774-1782G>A | ||
| ENST00000637782.1:c.1263G>A | ENSP00000490024.1:p.Ala421= | |
| ENST00000638008.1:c.*1107G>A | ENSP00000490400.1:n.*1107G>A | |
| ENST00000638010.1:n.1209G>A | ||
| ENST00000409134.7:c.1263G>A | ENSP00000387123.3:p.Ala421= | |
| ENST00000447989.6:c.1152G>A | ENSP00000414132.2:p.Ala384= | |
| ENST00000476328.1:n.28G>A | ||
| ENST00000497231.6:n.1473G>A | ||
| ENST00000503281.5:c.852G>A | ||
| ENST00000553117.5:c.1071G>A | ENSP00000448593.1:p.Ala357= | |
| NM_001182.4:c.1263G>A | NP_001173.2:p.Ala421= | |
| NM_001201377.1:c.1179G>A | NP_001188306.1:p.Ala393= | |
| NM_001202404.1:c.1152G>A | NP_001189333.1:p.Ala384= | |
| XM_011543417.1:c.858G>A | XP_011541719.1:p.Ala286= | |
| XM_011543417.2:c.858G>A | XP_011541719.1:p.Ala286= | |
| NM_001182.5:c.1263G>A MANE Select | NP_001173.2:p.Ala421= | |
| NM_001201377.2:c.1179G>A | NP_001188306.1:p.Ala393= | |
| NM_001202404.2:c.1071G>A | NP_001189333.2:p.Ala357= |