Linked Data
MyVariant Identifiers:
chr6:g.31828342C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860565C>T , CM000668.2:g.31860565C>T | GRCh38 |
| NC_000006.11:g.31828342C>T , CM000668.1:g.31828342C>T | GRCh37 |
| NC_000006.10:g.31936321C>T | NCBI36 |
| NG_008201.1:g.7368G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.672G>A MANE Select | ENSP00000364782.4:p.Glu224= | |
| ENST00000677054.1:n.1915G>A | ||
| ENST00000677512.1:n.780G>A | ||
| ENST00000678869.1:n.1346G>A | ||
| ENST00000375631.4:c.672G>A | ENSP00000364782.4:p.Glu224= | |
| ENST00000480384.1:n.701G>A | ||
| ENST00000491768.5:c.672G>A | ENSP00000433127.1:p.Glu224= | |
| ENST00000495807.1:n.1806G>A | ||
| NM_000434.3:c.672G>A | NP_000425.1:p.Glu224= | |
| NM_000434.4:c.672G>A MANE Select | NP_000425.1:p.Glu224= |