Linked Data
ClinVar Variation Id:
264519
dbSNP Id:
rs199668238
ExAC:
5:127664457 C / T
gnomAD v2:
5-127664457-C-T
gnomAD v3:
5-128328765-C-T
gnomAD v4:
5-128328765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128328765C>T , CM000667.2:g.128328765C>T | GRCh38 |
| NC_000005.9:g.127664457C>T , CM000667.1:g.127664457C>T | GRCh37 |
| NC_000005.8:g.127692356C>T | NCBI36 |
| NG_008750.1:g.214279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1186G>A | ||
| ENST00000703785.1:n.1267G>A | ||
| ENST00000703786.1:n.1008G>A | ||
| ENST00000262464.9:c.4402G>A MANE Select | ENSP00000262464.4:p.Val1468Ile | |
| ENST00000262464.8:c.4402G>A | ENSP00000262464.4:p.Val1468Ile | |
| ENST00000507835.5:c.952G>A | ENSP00000426839.1:p.Val318Ile | |
| ENST00000508053.5:c.4402G>A | ENSP00000424571.1:p.Val1468Ile | |
| ENST00000508989.5:c.4303G>A | ENSP00000425596.1:p.Val1435Ile | |
| ENST00000619499.4:c.4399G>A | ENSP00000482132.1:p.Val1467Ile | |
| NM_001999.3:c.4402G>A | NP_001990.2:p.Val1468Ile | |
| XM_017009228.2:c.4249G>A | XP_016864717.1:p.Val1417Ile | |
| NM_001999.4:c.4402G>A MANE Select | NP_001990.2:p.Val1468Ile |