Linked Data
dbSNP Id:
rs538569961
gnomAD v2:
6-29912262-C-A
gnomAD v3:
6-29944485-C-A
gnomAD v4:
6-29944485-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944485C>A , CM000668.2:g.29944485C>A | GRCh38 |
| NC_000006.11:g.29912262C>A , CM000668.1:g.29912262C>A | GRCh37 |
| NC_000006.10:g.30020241C>A | NCBI36 |
| NG_029217.2:g.7021C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.895+88C>A | ENSP00000492789.2:n.895+88C>A | |
| ENST00000706892.1:n.1837C>A | ||
| ENST00000706893.1:c.915C>A | ENSP00000516609.1:p.Phe305Leu | |
| ENST00000706894.1:c.896-15C>A | ENSP00000516610.1:n.896-15C>A | |
| ENST00000706895.1:n.1259C>A | ||
| ENST00000706896.1:n.1750-15C>A | ||
| ENST00000706897.1:n.1172-15C>A | ||
| ENST00000706898.1:c.896-15C>A | ENSP00000516611.1:n.896-15C>A | |
| ENST00000706899.1:n.1750-15C>A | ||
| ENST00000706900.1:c.812-15C>A | ENSP00000516617.1:n.812-15C>A | |
| ENST00000706901.1:c.896-15C>A | ENSP00000516612.1:n.896-15C>A | |
| ENST00000706902.1:c.896-15C>A | ENSP00000516613.1:n.896-15C>A | |
| ENST00000706903.1:c.896-15C>A | ENSP00000516614.1:n.896-15C>A | |
| ENST00000706904.1:c.896-15C>A | ENSP00000516615.1:n.896-15C>A | |
| ENST00000706905.1:c.896-15C>A | ENSP00000516616.1:n.896-15C>A | |
| ENST00000376809.10:c.896-15C>A MANE Select | ENSP00000366005.5:n.896-15C>A | |
| ENST00000638375.1:c.895+88C>A | ENSP00000492789.1:n.895+88C>A | |
| ENST00000376802.2:c.895+88C>A | ENSP00000365998.2:n.895+88C>A | |
| ENST00000376806.9:c.896-15C>A | ENSP00000366002.5:n.896-15C>A | |
| ENST00000376809.9:c.896-15C>A | ENSP00000366005.5:n.896-15C>A | |
| ENST00000396634.5:c.896-15C>A | ENSP00000379873.1:n.896-15C>A | |
| ENST00000461903.1:n.1137-15C>A | ||
| ENST00000479320.5:n.1137-15C>A | ||
| ENST00000495183.5:n.1139-15C>A | ||
| ENST00000496081.5:n.713-15C>A | ||
| NM_002116.7:c.896-15C>A | NP_002107.3:n.896-15C>A | |
| NM_002116.8:c.896-15C>A MANE Select | NP_002107.3:n.896-15C>A |