Linked Data
dbSNP Id:
rs2239839
ExAC:
6:33288075 C / A
gnomAD v2:
6-33288075-C-A
gnomAD v3:
6-33320298-C-A
gnomAD v4:
6-33320298-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33320298C>A , CM000668.2:g.33320298C>A | GRCh38 |
| NC_000006.11:g.33288075C>A , CM000668.1:g.33288075C>A | GRCh37 |
| NC_000006.10:g.33396053C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706094.1:c.1288-74G>T | ENSP00000516212.1:n.1288-74G>T | |
| ENST00000374542.10:c.1252-74G>T MANE Select | ENSP00000363668.5:n.1252-74G>T | |
| ENST00000266000.10:c.1252-74G>T | ENSP00000266000.6:n.1252-74G>T | |
| ENST00000374542.9:c.1252-74G>T | ENSP00000363668.5:n.1252-74G>T | |
| ENST00000414083.6:c.1027-74G>T | ENSP00000396876.2:n.1027-74G>T | |
| ENST00000468536.5:n.282-74G>T | ||
| ENST00000477162.1:n.364-74G>T | ||
| ENST00000490173.1:n.163G>T | ||
| ENST00000620164.4:c.1252-74G>T | ENSP00000482399.1:n.1252-74G>T | |
| NM_001141969.1:c.1252-74G>T | NP_001135441.1:n.1252-74G>T | |
| NM_001141970.1:c.1288-74G>T | NP_001135442.1:n.1288-74G>T | |
| NM_001254717.1:c.1027-74G>T | NP_001241646.1:n.1027-74G>T | |
| NM_001350.4:c.1252-74G>T | NP_001341.1:n.1252-74G>T | |
| XM_005248860.3:c.148-74G>T | XP_005248917.1:n.148-74G>T | |
| NM_001141969.2:c.1252-74G>T MANE Select | NP_001135441.1:n.1252-74G>T | |
| NM_001141970.2:c.1288-74G>T | NP_001135442.1:n.1288-74G>T | |
| NM_001350.5:c.1252-74G>T | NP_001341.1:n.1252-74G>T | |
| NM_001254717.2:c.1027-74G>T | NP_001241646.1:n.1027-74G>T |