MyVariant.info:
GRCh37
chr14:g.35873713G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404507G>A , CM000676.2:g.35404507G>A | GRCh38 |
| NC_000014.8:g.35873713G>A , CM000676.1:g.35873713G>A | GRCh37 |
| NC_000014.7:g.34943464G>A | NCBI36 |
| NG_007571.1:g.5232C>T , LRG_89:g.5232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.135+3C>T | ENSP00000451281.2:n.135+3C>T | |
| ENST00000557459.2:n.236C>T | ||
| ENST00000697957.1:n.243C>T | ||
| ENST00000697958.1:n.236C>T | ||
| ENST00000697959.1:n.243C>T | ||
| ENST00000697960.1:n.223C>T | ||
| ENST00000697961.1:c.138C>T | ENSP00000513487.1:p.Val46= | |
| ENST00000697966.1:n.156C>T | ||
| ENST00000216797.10:c.138C>T MANE Select | ENSP00000216797.6:p.Val46= | |
| ENST00000216797.9:c.138C>T | ENSP00000216797.5:p.Val46= | |
| ENST00000553342.1:c.135+3C>T | ENSP00000451281.1:n.135+3C>T | |
| ENST00000554001.5:c.138C>T | ENSP00000450537.1:p.Val46= | |
| ENST00000555629.1:n.243C>T | ||
| ENST00000557100.5:n.194C>T | ||
| ENST00000557140.5:c.138C>T | ENSP00000451257.1:p.Val46= | |
| ENST00000557459.1:n.236C>T | ||
| NM_020529.2:c.138C>T , LRG_89t1:c.138C>T | NP_065390.1:p.Val46= | |
| NM_020529.3:c.138C>T MANE Select | NP_065390.1:p.Val46= |