Linked Data
dbSNP Id:
rs1573591956
gnomAD v3:
2-111947407-T-C
gnomAD v4:
2-111947407-T-C
MyVariant Identifiers:
chr2:g.112704984T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947407T>C , CM000664.2:g.111947407T>C | GRCh38 |
| NC_000002.11:g.112704984T>C , CM000664.1:g.112704984T>C | GRCh37 |
| NC_000002.10:g.112421455T>C | NCBI36 |
| NG_011607.1:g.53794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.597T>C MANE Select | ENSP00000295408.4:p.Phe199= | |
| ENST00000295408.8:c.597T>C | ENSP00000295408.4:p.Phe199= | |
| ENST00000409780.5:c.69T>C | ENSP00000387277.1:p.Phe23= | |
| ENST00000421804.6:c.597T>C | ENSP00000389152.2:p.Phe199= | |
| ENST00000439966.5:c.*70T>C | ENSP00000402129.1:n.*70T>C | |
| ENST00000616902.4:c.-619T>C | ENSP00000482824.1:n.-619T>C | |
| NM_006343.2:c.597T>C | NP_006334.2:p.Phe199= | |
| XM_005263565.3:c.597T>C | XP_005263622.1:p.Phe199= | |
| XM_005263568.3:c.597T>C | XP_005263625.1:p.Phe199= | |
| XM_011510490.1:c.408T>C | XP_011508792.1:p.Phe136= | |
| XM_005263565.4:c.597T>C | XP_005263622.1:p.Phe199= | |
| XM_005263568.4:c.597T>C | XP_005263625.1:p.Phe199= | |
| XM_011510490.3:c.408T>C | XP_011508792.1:p.Phe136= | |
| XM_017003164.1:c.408T>C | XP_016858653.1:p.Phe136= | |
| XM_017003165.2:c.-671T>C | XP_016858654.1:n.-671T>C | |
| NM_006343.3:c.597T>C MANE Select | NP_006334.2:p.Phe199= |