Linked Data
ClinVar Variation Id:
3014701
ClinVar RCV Id:
RCV003878324
MyVariant Identifiers:
chr2:g.73650001T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73422873T>C , CM000664.2:g.73422873T>C | GRCh38 |
| NC_000002.11:g.73650001T>C , CM000664.1:g.73650001T>C | GRCh37 |
| NC_000002.10:g.73503509T>C | NCBI36 |
| NG_011690.1:g.42119T>C , LRG_741:g.42119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.213T>C | ENSP00000507671.1:p.Phe71= | |
| ENST00000682675.1:n.623T>C | ||
| ENST00000682801.1:c.213T>C | ENSP00000507862.1:p.Phe71= | |
| ENST00000682859.1:c.213T>C | ENSP00000508222.1:p.Phe71= | |
| ENST00000682889.1:n.628T>C | ||
| ENST00000683791.1:c.17T>C | ||
| ENST00000684548.1:c.213T>C | ENSP00000507421.1:p.Phe71= | |
| ENST00000613296.6:c.663T>C MANE Select | ENSP00000482968.1:p.Phe221= | |
| ENST00000484298.5:c.537T>C | ENSP00000478155.1:p.Phe179= | |
| ENST00000613296.4:c.663T>C | ENSP00000482968.1:p.Phe221= | |
| ENST00000614410.4:c.663T>C | ENSP00000479094.1:p.Phe221= | |
| NM_015120.4:c.666T>C , LRG_741t1:c.666T>C | NP_055935.4:p.Phe222= | |
| NM_001378454.1:c.663T>C MANE Select | NP_001365383.1:p.Phe221= |