Linked Data
gnomAD v3:
6-29944504-G-T
gnomAD v4:
6-29944504-G-T
MyVariant Identifiers:
chr6:g.29912281G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944504G>T , CM000668.2:g.29944504G>T | GRCh38 |
| NC_000006.11:g.29912281G>T , CM000668.1:g.29912281G>T | GRCh37 |
| NC_000006.10:g.30020260G>T | NCBI36 |
| NG_029217.2:g.7040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.895+107G>T | ENSP00000492789.2:n.895+107G>T | |
| ENST00000706892.1:n.1856G>T | ||
| ENST00000706893.1:c.934G>T | ENSP00000516609.1:p.Val312Phe | |
| ENST00000706894.1:c.900G>T | ENSP00000516610.1:p.Leu300= | |
| ENST00000706895.1:n.1278G>T | ||
| ENST00000706896.1:n.1754G>T | ||
| ENST00000706897.1:n.1176G>T | ||
| ENST00000706898.1:c.900G>T | ENSP00000516611.1:p.Leu300= | |
| ENST00000706899.1:n.1754G>T | ||
| ENST00000706900.1:c.816G>T | ENSP00000516617.1:p.Leu272= | |
| ENST00000706901.1:c.900G>T | ENSP00000516612.1:p.Leu300= | |
| ENST00000706902.1:c.900G>T | ENSP00000516613.1:p.Leu300= | |
| ENST00000706903.1:c.900G>T | ENSP00000516614.1:p.Leu300= | |
| ENST00000706904.1:c.900G>T | ENSP00000516615.1:p.Leu300= | |
| ENST00000706905.1:c.900G>T | ENSP00000516616.1:p.Leu300= | |
| ENST00000376809.10:c.900G>T MANE Select | ENSP00000366005.5:p.Leu300= | |
| ENST00000638375.1:c.895+107G>T | ENSP00000492789.1:n.895+107G>T | |
| ENST00000376802.2:c.895+107G>T | ENSP00000365998.2:n.895+107G>T | |
| ENST00000376806.9:c.900G>T | ENSP00000366002.5:p.Leu300= | |
| ENST00000376809.9:c.900G>T | ENSP00000366005.5:p.Leu300= | |
| ENST00000396634.5:c.900G>T | ENSP00000379873.1:p.Leu300= | |
| ENST00000461903.1:n.1141G>T | ||
| ENST00000479320.5:n.1141G>T | ||
| ENST00000495183.5:n.1143G>T | ||
| ENST00000496081.5:n.717G>T | ||
| NM_002116.7:c.900G>T | NP_002107.3:p.Leu300= | |
| NM_002116.8:c.900G>T MANE Select | NP_002107.3:p.Leu300= |