Linked Data
dbSNP Id:
rs3129015
ExAC:
6:29913098 C / T
gnomAD v2:
6-29913098-C-T
gnomAD v3:
6-29945321-C-T
gnomAD v4:
6-29945321-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945321C>T , CM000668.2:g.29945321C>T | GRCh38 |
| NC_000006.11:g.29913098C>T , CM000668.1:g.29913098C>T | GRCh37 |
| NC_000006.10:g.30021077C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.976+40C>T | ENSP00000492789.2:n.976+40C>T | |
| ENST00000706892.1:n.2673C>T | ||
| ENST00000706893.1:c.*77+40C>T | ENSP00000516609.1:n.*77+40C>T | |
| ENST00000706894.1:c.1133C>T | ENSP00000516610.1:p.Ala378Val | |
| ENST00000706895.1:n.1953C>T | ||
| ENST00000706896.1:n.2389+40C>T | ||
| ENST00000706897.1:n.1811+40C>T | ||
| ENST00000706898.1:c.1111+40C>T | ENSP00000516611.1:n.1111+40C>T | |
| ENST00000706899.1:n.1947+40C>T | ||
| ENST00000706900.1:c.1009+40C>T | ENSP00000516617.1:n.1009+40C>T | |
| ENST00000706901.1:c.1093+40C>T | ENSP00000516612.1:n.1093+40C>T | |
| ENST00000706902.1:c.1093+40C>T | ENSP00000516613.1:n.1093+40C>T | |
| ENST00000706903.1:c.1093+40C>T | ENSP00000516614.1:n.1093+40C>T | |
| ENST00000706904.1:c.1093+40C>T | ENSP00000516615.1:n.1093+40C>T | |
| ENST00000706905.1:c.1093+40C>T | ENSP00000516616.1:n.1093+40C>T | |
| ENST00000376809.10:c.1093+40C>T MANE Select | ENSP00000366005.5:n.1093+40C>T | |
| ENST00000376802.2:c.896-130C>T | ENSP00000365998.2:n.896-130C>T | |
| ENST00000376806.9:c.1111+40C>T | ENSP00000366002.5:n.1111+40C>T | |
| ENST00000376809.9:c.1093+40C>T | ENSP00000366005.5:n.1093+40C>T | |
| ENST00000396634.5:c.1093+40C>T | ENSP00000379873.1:n.1093+40C>T | |
| ENST00000495183.5:n.1332+40C>T | ||
| ENST00000496081.5:n.1352+40C>T | ||
| NM_002116.7:c.1093+40C>T | NP_002107.3:n.1093+40C>T | |
| NM_002116.8:c.1093+40C>T MANE Select | NP_002107.3:n.1093+40C>T |