Linked Data
ClinVar Variation Id:
225388
ClinVar RCV Id:
RCV000490425
dbSNP Id:
rs1085307072
PubMed:
PMID:10748062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452578G>A , CM000667.2:g.119452578G>A | GRCh38 |
| NC_000005.9:g.118788273G>A , CM000667.1:g.118788273G>A | GRCh37 |
| NC_000005.8:g.118816172G>A | NCBI36 |
| NG_008182.1:g.5126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.3G>A | ENSP00000426272.2:p.Met1Ile | |
| ENST00000512841.6:n.44G>A | ||
| ENST00000518349.6:c.3G>A | ENSP00000507185.1:p.Met1Ile | |
| ENST00000682445.1:c.3G>A | ENSP00000508061.1:p.Met1Ile | |
| ENST00000682996.1:c.3G>A | ENSP00000507792.1:p.Met1Ile | |
| ENST00000683371.1:c.3G>A | ENSP00000508376.1:p.Met1Ile | |
| ENST00000683390.1:n.51G>A | ||
| ENST00000683936.1:c.3G>A | ENSP00000507721.1:p.Met1Ile | |
| ENST00000683974.1:n.85G>A | ||
| ENST00000684214.1:c.3G>A | ENSP00000508071.1:p.Met1Ile | |
| ENST00000414835.7:c.-176G>A | ENSP00000411960.3:n.-176G>A | |
| ENST00000510025.7:c.3G>A MANE Select | ENSP00000424940.3:p.Met1Ile | |
| ENST00000644146.1:c.3G>A | ENSP00000494808.1:p.Met1Ile | |
| ENST00000645832.1:c.3G>A | ENSP00000494316.1:p.Met1Ile | |
| ENST00000646058.1:c.3G>A | ENSP00000493579.1:p.Met1Ile | |
| ENST00000646590.1:c.3G>A | ENSP00000494892.1:p.Met1Ile | |
| ENST00000256216.10:c.3G>A | ENSP00000256216.6:p.Met1Ile | |
| ENST00000442060.7:c.3G>A | ENSP00000390208.3:p.Met1Ile | |
| ENST00000504811.5:c.-176G>A | ENSP00000420914.1:n.-176G>A | |
| ENST00000510025.5:c.-135G>A | ENSP00000424940.1:n.-135G>A | |
| ENST00000511186.5:n.106G>A | ||
| ENST00000515235.6:n.63G>A | ||
| ENST00000515320.5:c.3G>A | ENSP00000424613.1:p.Met1Ile | |
| ENST00000519184.5:n.14G>A | ||
| NM_000414.3:c.3G>A | NP_000405.1:p.Met1Ile | |
| NM_001199291.2:c.-176G>A | NP_001186220.1:n.-176G>A | |
| NM_001199292.1:c.3G>A | NP_001186221.1:p.Met1Ile | |
| NM_001292027.1:c.-135G>A | NP_001278956.1:n.-135G>A | |
| NM_001292028.1:c.-597G>A | NP_001278957.1:n.-597G>A | |
| NM_000414.4:c.3G>A MANE Select | NP_000405.1:p.Met1Ile | |
| NM_001199291.3:c.-176G>A | NP_001186220.1:n.-176G>A | |
| NM_001199292.2:c.3G>A | NP_001186221.1:p.Met1Ile | |
| NM_001292027.2:c.-135G>A | NP_001278956.1:n.-135G>A | |
| NM_001292028.2:c.-597G>A | NP_001278957.1:n.-597G>A | |
| NM_001374497.1:c.3G>A | NP_001361426.1:p.Met1Ile | |
| NM_001374498.1:c.3G>A | NP_001361427.1:p.Met1Ile | |
| NM_001374499.1:c.-531G>A | NP_001361428.1:n.-531G>A | |
| NM_001374500.1:c.-724G>A | NP_001361429.1:n.-724G>A | |
| NM_001374501.1:c.-597G>A | NP_001361430.1:n.-597G>A | |
| NM_001374502.1:c.-602G>A | NP_001361431.1:n.-602G>A | |
| NM_001374503.1:c.-667G>A | NP_001361432.1:n.-667G>A | |
| NR_164653.1:n.82G>A | ||
| NR_164654.1:n.82G>A |