Linked Data
dbSNP Id:
rs747393270
ExAC:
11:68855421 A / C
gnomAD v2:
11-68855421-A-C
gnomAD v3:
11-69087953-A-C
gnomAD v4:
11-69087953-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69087953A>C , CM000673.2:g.69087953A>C | GRCh38 |
| NC_000011.9:g.68855421A>C , CM000673.1:g.68855421A>C | GRCh37 |
| NC_000011.8:g.68611997A>C | NCBI36 |
| NG_016153.1:g.44072A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.1116A>C | ENSP00000509200.1:p.Ter372Cys | |
| ENST00000294309.8:c.2259A>C MANE Select | ENSP00000294309.3:p.Ter753Cys | |
| ENST00000635811.1:c.*454A>C | ENSP00000490341.1:n.*454A>C | |
| ENST00000637084.1:c.1116A>C | ENSP00000490615.1:p.Ter372Cys | |
| ENST00000637342.1:c.2003+2023A>C | ENSP00000490171.1:n.2003+2023A>C | |
| ENST00000637504.1:c.*33+2667A>C | ENSP00000489759.1:n.*33+2667A>C | |
| ENST00000294309.7:c.2259A>C | ENSP00000294309.3:p.Ter753Cys | |
| ENST00000442692.2:n.1725A>C | ||
| ENST00000542467.1:c.1713A>C | ENSP00000445551.1:p.Ter571Cys | |
| NM_139075.3:c.2259A>C | NP_620714.2:p.Ter753Cys | |
| XM_005273824.2:c.2256A>C | XP_005273881.1:p.Ter752Cys | |
| XM_005273826.2:c.2004A>C | XP_005273883.1:p.Ter668Cys | |
| XM_005273830.2:c.1566A>C | XP_005273887.1:p.Ter522Cys | |
| XM_005273831.2:c.1566A>C | XP_005273888.1:p.Ter522Cys | |
| XM_005273832.2:c.1536A>C | XP_005273889.1:p.Ter512Cys | |
| XM_006718453.2:c.1639+6454A>C | XP_006718516.1:n.1639+6454A>C | |
| XM_006718454.2:c.1689+6454A>C | XP_006718517.1:n.1689+6454A>C | |
| XM_011544802.1:c.2019A>C | XP_011543104.1:p.Ter673Cys | |
| XM_011544807.1:c.1563A>C | XP_011543109.1:p.Ter521Cys | |
| XM_011544808.1:c.1428A>C | XP_011543110.1:p.Ter476Cys | |
| XM_005273824.4:c.2256A>C | XP_005273881.1:p.Ter752Cys | |
| XM_005273826.4:c.2004A>C | XP_005273883.1:p.Ter668Cys | |
| XM_005273830.4:c.1566A>C | XP_005273887.1:p.Ter522Cys | |
| XM_005273831.4:c.1566A>C | XP_005273888.1:p.Ter522Cys | |
| XM_005273832.4:c.1536A>C | XP_005273889.1:p.Ter512Cys | |
| XM_011544802.3:c.2019A>C | XP_011543104.1:p.Ter673Cys | |
| XM_011544807.3:c.1563A>C | XP_011543109.1:p.Ter521Cys | |
| XM_011544808.3:c.1428A>C | XP_011543110.1:p.Ter476Cys | |
| XM_017017328.2:c.2040A>C | XP_016872817.1:p.Ter680Cys | |
| XM_017017329.2:c.2037A>C | XP_016872818.1:p.Ter679Cys | |
| XM_017017330.2:c.1536A>C | XP_016872819.1:p.Ter512Cys | |
| XM_017017331.2:c.1536A>C | XP_016872820.1:p.Ter512Cys | |
| XM_017017332.2:c.1350A>C | XP_016872821.1:p.Ter450Cys | |
| XM_017017333.2:c.1317A>C | XP_016872822.1:p.Ter439Cys | |
| XM_017017334.2:c.1317A>C | XP_016872823.1:p.Ter439Cys | |
| XM_017017335.2:c.1317A>C | XP_016872824.1:p.Ter439Cys | |
| XM_017017336.2:c.1209A>C | XP_016872825.1:p.Ter403Cys | |
| XM_024448392.1:c.2049A>C | XP_024304160.1:p.Ter683Cys | |
| XM_024448393.1:c.1536A>C | XP_024304161.1:p.Ter512Cys | |
| XR_001747789.2:n.2191A>C | ||
| XR_247191.3:n.2313A>C | ||
| NM_139075.4:c.2259A>C MANE Select | NP_620714.2:p.Ter753Cys |