Linked Data
dbSNP Id:
rs780630636
ExAC:
14:21897395 C / T
gnomAD v2:
14-21897395-C-T
gnomAD v4:
14-21429236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21429236C>T , CM000676.2:g.21429236C>T | GRCh38 |
| NC_000014.8:g.21897395C>T , CM000676.1:g.21897395C>T | GRCh37 |
| NC_000014.7:g.20967235C>T | NCBI36 |
| NG_021249.1:g.13063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.106G>A | ENSP00000406288.3:p.Val36Met | |
| ENST00000553651.2:n.2749G>A | ||
| ENST00000555962.6:c.-111+2575G>A | ENSP00000495174.1:n.-111+2575G>A | |
| ENST00000557364.6:c.943G>A | ENSP00000451601.1:p.Val315Met | |
| ENST00000642518.1:c.106G>A | ENSP00000496722.1:p.Val36Met | |
| ENST00000643048.1:n.1238G>A | ||
| ENST00000643469.1:c.943G>A | ENSP00000495070.1:p.Val315Met | |
| ENST00000645140.1:c.855G>A | ||
| ENST00000645929.1:c.106G>A | ENSP00000494402.1:p.Val36Met | |
| ENST00000646063.1:c.1030G>A | ENSP00000496565.1:p.Val344Met | |
| ENST00000646340.1:c.949G>A | ENSP00000496730.1:p.Val317Met | |
| ENST00000646647.2:c.943G>A MANE Select | ENSP00000495240.1:p.Val315Met | |
| ENST00000399982.6:c.943G>A | ENSP00000382863.2:p.Val315Met | |
| ENST00000430710.7:c.106G>A | ENSP00000406288.3:p.Val36Met | |
| ENST00000553283.1:c.196G>A | ENSP00000450860.1:p.Val66Met | |
| ENST00000555962.5:n.150+2575G>A | ||
| ENST00000557364.5:c.943G>A | ENSP00000451601.1:p.Val315Met | |
| NM_001170629.1:c.943G>A | NP_001164100.1:p.Val315Met | |
| NM_020920.3:c.106G>A | NP_065971.2:p.Val36Met | |
| NM_001170629.2:c.943G>A MANE Select | NP_001164100.1:p.Val315Met | |
| NM_020920.4:c.106G>A | NP_065971.2:p.Val36Met |