Linked Data
ClinVar Variation Id:
36814
dbSNP Id:
rs193922592
COSMIC:
COSM24912
ERepo:
CA214292/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978769A>G , CM000674.2:g.120978769A>G | GRCh38 |
| NC_000012.11:g.121416572A>G , CM000674.1:g.121416572A>G | GRCh37 |
| NC_000012.10:g.119900955A>G | NCBI36 |
| NG_011731.2:g.5024A>G , LRG_522:g.5024A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.1A>G | ENSP00000453965.2:p.Met1Val | |
| ENST00000257555.11:c.1A>G MANE Select | ENSP00000257555.5:p.Met1Val | |
| ENST00000257555.10:c.1A>G | ENSP00000257555.4:p.Met1Val | |
| ENST00000400024.6:c.1A>G | ENSP00000476181.1:p.Met1Val | |
| ENST00000402929.5:n.136A>G | ||
| ENST00000535955.5:n.42+77A>G | ||
| ENST00000538626.2:n.119A>G | ||
| ENST00000538646.5:c.1A>G | ENSP00000443964.1:p.Met1Val | |
| ENST00000540108.1:c.1A>G | ENSP00000445445.1:p.Met1Val | |
| ENST00000541395.5:c.1A>G | ENSP00000443112.1:p.Met1Val | |
| ENST00000541924.5:c.1A>G | ENSP00000440361.1:p.Met1Val | |
| ENST00000543427.5:c.1A>G | ENSP00000439721.2:p.Met1Val | |
| ENST00000544413.2:c.1A>G | ENSP00000438804.1:p.Met1Val | |
| ENST00000544574.5:c.1A>G | ENSP00000438565.1:p.Met1Val | |
| ENST00000560968.5:c.144A>G | ||
| ENST00000615446.4:c.-258+58A>G | ENSP00000483994.1:n.-258+58A>G | |
| ENST00000617366.4:c.1A>G | ENSP00000481967.1:p.Met1Val | |
| NM_000545.5:c.1A>G , LRG_522t1:c.1A>G | NP_000536.5:p.Met1Val | |
| NM_000545.6:c.1A>G | NP_000536.5:p.Met1Val | |
| NM_001306179.1:c.1A>G | NP_001293108.1:p.Met1Val | |
| XM_005253931.2:c.1A>G | XP_005253988.1:p.Met1Val | |
| XM_024449168.1:c.1A>G | XP_024304936.1:p.Met1Val | |
| NM_000545.8:c.1A>G MANE Select | NP_000536.6:p.Met1Val | |
| NM_001306179.2:c.1A>G | NP_001293108.2:p.Met1Val |