Linked Data
dbSNP Id:
rs10488084
gnomAD v2:
7-30083021-A-C
gnomAD v3:
7-30043405-A-C
gnomAD v4:
7-30043405-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30043405A>C , CM000669.2:g.30043405A>C | GRCh38 |
| NC_000007.13:g.30083021A>C , CM000669.1:g.30083021A>C | GRCh37 |
| NC_000007.12:g.30049546A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707142.1:n.32-1680A>C | ||
| ENST00000440706.3:c.41-1680A>C | ENSP00000407802.2:n.41-1680A>C | |
| ENST00000449726.6:c.41-1680A>C MANE Select | ENSP00000397947.1:n.41-1680A>C | |
| ENST00000649443.1:c.*17-1680A>C | ENSP00000497449.1:n.*17-1680A>C | |
| ENST00000258679.11:c.41-1680A>C | ENSP00000258679.7:n.41-1680A>C | |
| ENST00000396257.6:c.41-1680A>C | ENSP00000379556.2:n.41-1680A>C | |
| ENST00000396259.5:c.41-1680A>C | ENSP00000379558.1:n.41-1680A>C | |
| ENST00000440706.2:c.119-1680A>C | ENSP00000407802.1:n.119-1680A>C | |
| ENST00000449726.5:c.41-1680A>C | ENSP00000397947.1:n.41-1680A>C | |
| ENST00000483799.5:n.145-1680A>C | ||
| ENST00000622102.4:c.41-1680A>C | ENSP00000484427.1:n.41-1680A>C | |
| NM_001197026.1:c.41-1680A>C | NP_001183955.1:n.41-1680A>C | |
| NM_001197027.1:c.41-1680A>C | NP_001183956.1:n.41-1680A>C | |
| NM_032639.3:c.41-1680A>C | NP_116028.1:n.41-1680A>C | |
| XM_005249897.2:c.41-1680A>C | XP_005249954.1:n.41-1680A>C | |
| XM_005249898.1:c.-480-1680A>C | XP_005249955.1:n.-480-1680A>C | |
| XM_011515591.1:c.41-1680A>C | XP_011513893.1:n.41-1680A>C | |
| XM_011515592.1:c.41-1680A>C | XP_011513894.1:n.41-1680A>C | |
| XM_011515593.1:c.41-1680A>C | XP_011513895.1:n.41-1680A>C | |
| XM_011515594.1:c.41-1680A>C | XP_011513896.1:n.41-1680A>C | |
| XM_011515595.1:c.41-1680A>C | XP_011513897.1:n.41-1680A>C | |
| NM_001350973.1:c.41-1680A>C | NP_001337902.1:n.41-1680A>C | |
| NM_001350974.1:c.41-1680A>C | NP_001337903.1:n.41-1680A>C | |
| NM_001350975.1:c.-616-1680A>C | NP_001337904.1:n.-616-1680A>C | |
| NM_001363473.1:c.41-1680A>C | NP_001350402.1:n.41-1680A>C | |
| XM_011515591.2:c.41-1680A>C | XP_011513893.1:n.41-1680A>C | |
| XM_011515592.3:c.41-1680A>C | XP_011513894.1:n.41-1680A>C | |
| XM_017012744.1:c.41-1680A>C | XP_016868233.1:n.41-1680A>C | |
| XM_017012746.1:c.-616-1680A>C | XP_016868235.1:n.-616-1680A>C | |
| XM_017012747.1:c.-649-1680A>C | XP_016868236.1:n.-649-1680A>C | |
| NM_001197026.2:c.41-1680A>C MANE Select | NP_001183955.1:n.41-1680A>C | |
| NM_001350973.2:c.41-1680A>C | NP_001337902.1:n.41-1680A>C | |
| NM_001350974.2:c.41-1680A>C | NP_001337903.1:n.41-1680A>C | |
| NM_032639.4:c.41-1680A>C | NP_116028.1:n.41-1680A>C | |
| NM_001197027.2:c.41-1680A>C | NP_001183956.1:n.41-1680A>C | |
| NM_001350975.2:c.-616-1680A>C | NP_001337904.1:n.-616-1680A>C |