Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472617G>A , CM000677.2:g.48472617G>A | GRCh38 |
| NC_000015.9:g.48764814G>A , CM000677.1:g.48764814G>A | GRCh37 |
| NC_000015.8:g.46552106G>A | NCBI36 |
| NG_008805.2:g.178172C>T , LRG_778:g.178172C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.4270C>T MANE Select | NP_000129.3:p.Pro1424Ser |
| ENST00000316623.10:c.4270C>T MANE Select | ENSP00000325527.5:p.Pro1424Ser |
| NM_000138.4:c.4270C>T , LRG_778t1:c.4270C>T | NP_000129.3:p.Pro1424Ser |
| ENST00000316623.9:c.4270C>T | ENSP00000325527.5:p.Pro1424Ser |
| ENST00000537463.6:c.*33C>T | ENSP00000440294.2:n.*33C>T |
| ENST00000559133.6:c.4270C>T | ENSP00000453958.2:p.Pro1424Ser |
| ENST00000674301.2:c.4270C>T | ENSP00000501333.2:p.Pro1424Ser |
| ENST00000683268.1:n.237C>T | |
| ENST00000684448.1:n.2944C>T |