Linked Data
dbSNP Id:
rs1905058965
COSMIC:
COSM3515806
MyVariant Identifiers:
chr17:g.29283285T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956267T>C , CM000679.2:g.30956267T>C | GRCh38 |
| NC_000017.10:g.29283285T>C , CM000679.1:g.29283285T>C | GRCh37 |
| NC_000017.9:g.26307411T>C | NCBI36 |
| NG_051975.1:g.39532T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.909T>C MANE Select | ENSP00000329468.3:p.Phe303= | |
| ENST00000330889.7:c.909T>C | ENSP00000329468.3:p.Phe303= | |
| ENST00000470962.1:n.329T>C | ||
| ENST00000480980.1:n.343T>C | ||
| ENST00000580525.5:c.927T>C | ENSP00000464121.1:p.Phe309= | |
| ENST00000581285.5:c.825T>C | ENSP00000464155.1:p.Phe275= | |
| ENST00000584828.5:c.278T>C | ||
| ENST00000584989.1:c.201T>C | ENSP00000462634.1:p.Phe67= | |
| ENST00000585130.5:c.*508T>C | ENSP00000464120.1:n.*508T>C | |
| NM_018404.2:c.909T>C | NP_060874.1:p.Phe303= | |
| XM_005258008.2:c.927T>C | XP_005258065.1:p.Phe309= | |
| XM_005258011.2:c.864T>C | XP_005258068.1:p.Phe288= | |
| XM_006721973.2:c.927T>C | XP_006722036.1:p.Phe309= | |
| XM_011524993.1:c.924T>C | XP_011523295.1:p.Phe308= | |
| XM_011524994.1:c.906T>C | XP_011523296.1:p.Phe302= | |
| NM_001346712.1:c.927T>C | NP_001333641.1:p.Phe309= | |
| NM_001346714.1:c.906T>C | NP_001333643.1:p.Phe302= | |
| NM_001346716.1:c.909T>C | NP_001333645.1:p.Phe303= | |
| NR_144488.1:n.1108T>C | ||
| XM_024450831.1:c.909T>C | XP_024306599.1:p.Phe303= | |
| XM_024450832.1:c.924T>C | XP_024306600.1:p.Phe308= | |
| XM_024450833.1:c.864T>C | XP_024306601.1:p.Phe288= | |
| XM_024450834.1:c.927T>C | XP_024306602.1:p.Phe309= | |
| XM_024450835.1:c.543T>C | XP_024306603.1:p.Phe181= | |
| NM_018404.3:c.909T>C MANE Select | NP_060874.1:p.Phe303= | |
| NM_001346712.2:c.927T>C | NP_001333641.1:p.Phe309= | |
| NM_001346714.2:c.906T>C | NP_001333643.1:p.Phe302= | |
| NM_001346716.2:c.909T>C | NP_001333645.1:p.Phe303= | |
| NR_144488.2:n.899T>C |