Linked Data
ClinVar Variation Id:
17998
ClinVar RCV Id:
RCV000019614
dbSNP Id:
rs121912709
PubMed:
PMID:16491085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577133G>A , CM000667.2:g.126577133G>A | GRCh38 |
| NC_000005.9:g.125912825G>A , CM000667.1:g.125912825G>A | GRCh37 |
| NC_000005.8:g.125940724G>A | NCBI36 |
| NG_008600.2:g.23258C>T | |
| NG_008600.3:g.23258C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.596C>T MANE Select | ENSP00000387123.3:p.Ala199Val | |
| ENST00000412186.2:c.472C>T | ENSP00000414536.2:n.472C>T | |
| ENST00000413020.6:c.596C>T | ENSP00000487936.1:p.Ala199Val | |
| ENST00000458249.6:c.*505C>T | ENSP00000403929.1:n.*505C>T | |
| ENST00000503281.6:c.185C>T | ||
| ENST00000509270.2:c.530C>T | ENSP00000449318.2:p.Ala177Val | |
| ENST00000509459.6:c.144C>T | ||
| ENST00000511266.6:n.1318C>T | ||
| ENST00000635851.1:c.594C>T | ||
| ENST00000636062.1:n.491C>T | ||
| ENST00000636225.1:c.*405C>T | ENSP00000490797.1:n.*405C>T | |
| ENST00000636286.1:n.314C>T | ||
| ENST00000636743.1:c.476C>T | ENSP00000489725.1:p.Ala159Val | |
| ENST00000636808.1:c.*405C>T | ENSP00000490833.1:n.*405C>T | |
| ENST00000636872.1:c.756C>T | ENSP00000490919.1:n.756C>T | |
| ENST00000636879.1:c.641C>T | ENSP00000490811.1:p.Ala214Val | |
| ENST00000636886.1:c.395C>T | ENSP00000490371.1:p.Ala132Val | |
| ENST00000637206.1:c.596C>T | ENSP00000489895.1:p.Ala199Val | |
| ENST00000637272.1:c.596C>T | ENSP00000489686.1:p.Ala199Val | |
| ENST00000637292.1:c.249C>T | ||
| ENST00000637782.1:c.596C>T | ENSP00000490024.1:p.Ala199Val | |
| ENST00000637964.1:c.542C>T | ENSP00000490291.1:p.Ala181Val | |
| ENST00000638008.1:c.*538C>T | ENSP00000490400.1:n.*538C>T | |
| ENST00000409134.7:c.596C>T | ENSP00000387123.3:p.Ala199Val | |
| ENST00000413020.5:c.596C>T | ENSP00000487936.1:p.Ala199Val | |
| ENST00000433026.5:n.123C>T | ||
| ENST00000447989.6:c.677C>T | ENSP00000414132.2:p.Ala226Val | |
| ENST00000458249.5:c.756C>T | ENSP00000403929.1:n.756C>T | |
| ENST00000503281.5:c.185C>T | ||
| ENST00000509459.5:c.144C>T | ||
| ENST00000510111.6:c.509C>T | ENSP00000447388.1:p.Ala170Val | |
| ENST00000511266.5:n.427C>T | ||
| ENST00000553117.5:c.596C>T | ENSP00000448593.1:p.Ala199Val | |
| NM_001182.4:c.596C>T | NP_001173.2:p.Ala199Val | |
| NM_001201377.1:c.512C>T | NP_001188306.1:p.Ala171Val | |
| NM_001202404.1:c.677C>T | NP_001189333.1:p.Ala226Val | |
| XM_011543417.1:c.191C>T | XP_011541719.1:p.Ala64Val | |
| XM_011543417.2:c.191C>T | XP_011541719.1:p.Ala64Val | |
| NM_001182.5:c.596C>T MANE Select | NP_001173.2:p.Ala199Val | |
| NM_001201377.2:c.512C>T | NP_001188306.1:p.Ala171Val | |
| NM_001202404.2:c.596C>T | NP_001189333.2:p.Ala199Val |