Linked Data
dbSNP Id:
rs746756798
ExAC:
6:29911876 A / C
gnomAD v2:
6-29911876-A-C
gnomAD v3:
6-29944099-A-C
gnomAD v4:
6-29944099-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944099A>C , CM000668.2:g.29944099A>C | GRCh38 |
| NC_000006.11:g.29911876A>C , CM000668.1:g.29911876A>C | GRCh37 |
| NC_000006.10:g.30019855A>C | NCBI36 |
| NG_029217.2:g.6635A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.620-23A>C | ENSP00000492789.2:n.620-23A>C | |
| ENST00000706892.1:n.1451A>C | ||
| ENST00000706893.1:c.620-23A>C | ENSP00000516609.1:n.620-23A>C | |
| ENST00000706894.1:c.620-23A>C | ENSP00000516610.1:n.620-23A>C | |
| ENST00000706895.1:n.896-23A>C | ||
| ENST00000706896.1:n.1451A>C | ||
| ENST00000706897.1:n.896-23A>C | ||
| ENST00000706898.1:c.620-23A>C | ENSP00000516611.1:n.620-23A>C | |
| ENST00000706899.1:n.1451A>C | ||
| ENST00000706900.1:c.536-23A>C | ENSP00000516617.1:n.536-23A>C | |
| ENST00000706901.1:c.620-23A>C | ENSP00000516612.1:n.620-23A>C | |
| ENST00000706902.1:c.620-23A>C | ENSP00000516613.1:n.620-23A>C | |
| ENST00000706903.1:c.620-23A>C | ENSP00000516614.1:n.620-23A>C | |
| ENST00000706904.1:c.620-23A>C | ENSP00000516615.1:n.620-23A>C | |
| ENST00000706905.1:c.620-23A>C | ENSP00000516616.1:n.620-23A>C | |
| ENST00000376809.10:c.620-23A>C MANE Select | ENSP00000366005.5:n.620-23A>C | |
| ENST00000638375.1:c.620-23A>C | ENSP00000492789.1:n.620-23A>C | |
| ENST00000376802.2:c.620-23A>C | ENSP00000365998.2:n.620-23A>C | |
| ENST00000376806.9:c.620-23A>C | ENSP00000366002.5:n.620-23A>C | |
| ENST00000376809.9:c.620-23A>C | ENSP00000366005.5:n.620-23A>C | |
| ENST00000396634.5:c.620-23A>C | ENSP00000379873.1:n.620-23A>C | |
| ENST00000461903.1:n.861-23A>C | ||
| ENST00000479320.5:n.861-23A>C | ||
| ENST00000495183.5:n.863-23A>C | ||
| ENST00000496081.5:n.437-23A>C | ||
| NM_002116.7:c.620-23A>C | NP_002107.3:n.620-23A>C | |
| NM_002116.8:c.620-23A>C MANE Select | NP_002107.3:n.620-23A>C |