Linked Data
MyVariant Identifiers:
chr7:g.17379393T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339769T>C , CM000669.2:g.17339769T>C | GRCh38 |
| NC_000007.13:g.17379393T>C , CM000669.1:g.17379393T>C | GRCh37 |
| NC_000007.12:g.17345918T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1944T>C MANE Select | ENSP00000242057.4:p.Asn648= | |
| ENST00000637807.1:c.1914T>C | ENSP00000490530.1:p.Asn638= | |
| ENST00000642825.1:c.1899T>C | ENSP00000495987.1:p.Asn633= | |
| ENST00000242057.8:c.1944T>C | ENSP00000242057.4:p.Asn648= | |
| ENST00000463496.1:c.1944T>C | ENSP00000436466.1:p.Asn648= | |
| NM_001621.4:c.1944T>C | NP_001612.1:p.Asn648= | |
| NM_001621.5:c.1944T>C MANE Select | NP_001612.1:p.Asn648= |