Linked Data
dbSNP Id:
rs758829783
ExAC:
2:112755051 T / C
gnomAD v2:
2-112755051-T-C
gnomAD v3:
2-111997474-T-C
gnomAD v4:
2-111997474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997474T>C , CM000664.2:g.111997474T>C | GRCh38 |
| NC_000002.11:g.112755051T>C , CM000664.1:g.112755051T>C | GRCh37 |
| NC_000002.10:g.112471522T>C | NCBI36 |
| NG_011607.1:g.103861T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1602T>C MANE Select | ENSP00000295408.4:p.Phe534= | |
| ENST00000295408.8:c.1602T>C | ENSP00000295408.4:p.Phe534= | |
| ENST00000409780.5:c.1074T>C | ENSP00000387277.1:p.Phe358= | |
| ENST00000421804.6:c.1602T>C | ENSP00000389152.2:p.Phe534= | |
| ENST00000439966.5:c.*1075T>C | ENSP00000402129.1:n.*1075T>C | |
| ENST00000473065.1:n.105T>C | ||
| ENST00000616902.4:c.567T>C | ENSP00000482824.1:p.Phe189= | |
| NM_006343.2:c.1602T>C | NP_006334.2:p.Phe534= | |
| XM_005263565.3:c.1602T>C | XP_005263622.1:p.Phe534= | |
| XM_005263568.3:c.1602T>C | XP_005263625.1:p.Phe534= | |
| XM_011510490.1:c.1413T>C | XP_011508792.1:p.Phe471= | |
| XM_011510491.1:c.387T>C | XP_011508793.1:p.Phe129= | |
| XM_005263565.4:c.1602T>C | XP_005263622.1:p.Phe534= | |
| XM_005263568.4:c.1602T>C | XP_005263625.1:p.Phe534= | |
| XM_011510490.3:c.1413T>C | XP_011508792.1:p.Phe471= | |
| XM_017003164.1:c.1413T>C | XP_016858653.1:p.Phe471= | |
| XM_017003165.2:c.387T>C | XP_016858654.1:p.Phe129= | |
| NM_006343.3:c.1602T>C MANE Select | NP_006334.2:p.Phe534= |