Linked Data
dbSNP Id:
rs6141600
gnomAD v2:
20-34712310-T-C
gnomAD v3:
20-36124388-T-C
gnomAD v4:
20-36124388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36124388T>C , CM000682.2:g.36124388T>C | GRCh38 |
| NC_000020.10:g.34712310T>C , CM000682.1:g.34712310T>C | GRCh37 |
| NC_000020.9:g.34175724T>C | NCBI36 |
| NG_031853.2:g.37885T>C | |
| NG_031853.3:g.37885T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000202028.9:c.-10+11908T>C | ENSP00000202028.5:n.-10+11908T>C | |
| ENST00000373946.7:c.-15+10589T>C | ENSP00000363057.4:n.-15+10589T>C | |
| ENST00000373950.6:c.-10+2572T>C | ENSP00000363061.2:n.-10+2572T>C | |
| ENST00000406771.6:c.-15+31575T>C | ENSP00000385244.2:n.-15+31575T>C | |
| ENST00000427533.2:c.-119-1035T>C | ENSP00000408877.1:n.-119-1035T>C | |
| ENST00000430276.5:c.-10+31575T>C | ENSP00000404341.1:n.-10+31575T>C | |
| ENST00000432589.5:c.-10+11908T>C | ENSP00000393106.1:n.-10+11908T>C | |
| ENST00000441639.5:c.-10+11908T>C | ENSP00000399214.1:n.-10+11908T>C | |
| ENST00000447825.5:c.-15+11908T>C | ENSP00000396366.1:n.-15+11908T>C | |
| ENST00000452261.5:c.-15+10589T>C | ENSP00000413262.1:n.-15+10589T>C | |
| ENST00000628415.2:c.-21-1035T>C | ENSP00000487049.2:n.-21-1035T>C | |
| NM_001258329.1:c.-15+10589T>C | NP_001245258.1:n.-15+10589T>C | |
| NM_001258330.1:c.-21-1035T>C | NP_001245259.1:n.-21-1035T>C | |
| NM_001258331.1:c.-10+11908T>C | NP_001245260.1:n.-10+11908T>C | |
| NM_177996.2:c.-10+11908T>C | NP_818932.1:n.-10+11908T>C | |
| XM_011528667.1:c.148-1035T>C | XP_011526969.1:n.148-1035T>C | |
| XM_011528670.1:c.-15+1641T>C | XP_011526972.1:n.-15+1641T>C | |
| XM_011528671.1:c.-15+11908T>C | XP_011526973.1:n.-15+11908T>C | |
| XM_011528672.1:c.-119-1035T>C | XP_011526974.1:n.-119-1035T>C | |
| XM_011528675.1:c.-21-1035T>C | XP_011526977.1:n.-21-1035T>C | |
| XM_011528677.1:c.-10+11908T>C | XP_011526979.1:n.-10+11908T>C | |
| XM_017027711.1:c.-10+31575T>C | XP_016883200.1:n.-10+31575T>C | |
| XM_017027712.2:c.-21-1035T>C | XP_016883201.1:n.-21-1035T>C | |
| XM_017027713.2:c.-21-1035T>C | XP_016883202.1:n.-21-1035T>C | |
| XM_017027714.2:c.-21-1035T>C | XP_016883203.1:n.-21-1035T>C | |
| XM_017027716.1:c.-15+11908T>C | XP_016883205.1:n.-15+11908T>C | |
| XM_017027717.2:c.-15+10589T>C | XP_016883206.1:n.-15+10589T>C | |
| XM_017027718.2:c.-21-1035T>C | XP_016883207.1:n.-21-1035T>C | |
| XM_017027719.2:c.-21-1035T>C | XP_016883208.1:n.-21-1035T>C | |
| XM_017027720.1:c.-119-1035T>C | XP_016883209.1:n.-119-1035T>C | |
| XM_024451851.1:c.135+11908T>C | XP_024307619.1:n.135+11908T>C | |
| XM_024451853.1:c.-10+11908T>C | XP_024307621.1:n.-10+11908T>C | |
| XM_024451854.1:c.-10+11908T>C | XP_024307622.1:n.-10+11908T>C | |
| NM_001258331.2:c.-10+11908T>C | NP_001245260.1:n.-10+11908T>C |