Linked Data
dbSNP Id:
rs776496020
ExAC:
20:62065120 A / C
gnomAD v2:
20-62065120-A-C
gnomAD v3:
20-63433767-A-C
gnomAD v4:
20-63433767-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63433767A>C , CM000682.2:g.63433767A>C | GRCh38 |
| NC_000020.10:g.62065120A>C , CM000682.1:g.62065120A>C | GRCh37 |
| NC_000020.9:g.61535564A>C | NCBI36 |
| NG_009004.1:g.43874T>G | |
| NG_009004.2:g.43874T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.1118+42T>G | ENSP00000516702.1:n.1118+42T>G | |
| ENST00000344425.8:c.1160T>G | ENSP00000345523.5:p.Phe387Cys | |
| ENST00000359125.7:c.1118+42T>G MANE Select | ENSP00000352035.2:n.1118+42T>G | |
| ENST00000635864.1:n.33+42T>G | ||
| ENST00000636255.1:n.898T>G | ||
| ENST00000637193.1:c.599+42T>G | ENSP00000490734.1:n.599+42T>G | |
| ENST00000637890.1:n.68+42T>G | ||
| ENST00000344425.7:c.1160T>G | ENSP00000345523.5:p.Phe387Cys | |
| ENST00000344462.8:c.1118+42T>G | ENSP00000339611.4:n.1118+42T>G | |
| ENST00000357249.6:c.776+42T>G | ENSP00000349789.3:n.776+42T>G | |
| ENST00000359125.6:c.1118+42T>G | ENSP00000352035.2:n.1118+42T>G | |
| ENST00000360480.7:c.1118+42T>G | ENSP00000353668.3:n.1118+42T>G | |
| ENST00000370221.3:n.1244+42T>G | ||
| ENST00000370224.5:c.1118+42T>G | ENSP00000359244.2:n.1118+42T>G | |
| ENST00000482957.1:n.511T>G | ||
| ENST00000625514.2:c.1118+42T>G | ENSP00000486040.1:n.1118+42T>G | |
| ENST00000626839.2:c.1118+42T>G | ENSP00000486706.1:n.1118+42T>G | |
| ENST00000627221.2:c.262+42T>G | ||
| ENST00000629241.2:c.1118+42T>G | ENSP00000487142.1:n.1118+42T>G | |
| ENST00000629498.2:c.633T>G | ENSP00000486509.1:n.633T>G | |
| ENST00000629676.2:c.1118+42T>G | ENSP00000486194.1:n.1118+42T>G | |
| NM_004518.4:c.1118+42T>G | NP_004509.2:n.1118+42T>G | |
| NM_172106.1:c.1118+42T>G | NP_742104.1:n.1118+42T>G | |
| NM_172107.2:c.1118+42T>G | NP_742105.1:n.1118+42T>G | |
| NM_172108.3:c.1118+42T>G | NP_742106.1:n.1118+42T>G | |
| NM_172109.1:c.1160T>G | NP_742107.1:p.Phe387Cys | |
| XM_006723787.1:c.1118+42T>G | XP_006723850.1:n.1118+42T>G | |
| XM_011528807.1:c.1118+42T>G | XP_011527109.1:n.1118+42T>G | |
| XM_011528808.1:c.1118+42T>G | XP_011527110.1:n.1118+42T>G | |
| XM_011528809.1:c.1118+42T>G | XP_011527111.1:n.1118+42T>G | |
| XM_011528810.1:c.1118+42T>G | XP_011527112.1:n.1118+42T>G | |
| XM_011528811.1:c.1118+42T>G | XP_011527113.1:n.1118+42T>G | |
| XM_011528812.1:c.1118+42T>G | XP_011527114.1:n.1118+42T>G | |
| XM_011528813.1:c.992+42T>G | XP_011527115.1:n.992+42T>G | |
| XM_011528814.1:c.599+42T>G | XP_011527116.1:n.599+42T>G | |
| XM_011528815.1:c.1118+42T>G | XP_011527117.1:n.1118+42T>G | |
| NM_004518.5:c.1118+42T>G | NP_004509.2:n.1118+42T>G | |
| NM_172106.2:c.1118+42T>G | NP_742104.1:n.1118+42T>G | |
| NM_172107.3:c.1118+42T>G | NP_742105.1:n.1118+42T>G | |
| NM_172108.4:c.1118+42T>G | NP_742106.1:n.1118+42T>G | |
| NM_172109.2:c.1160T>G | NP_742107.1:p.Phe387Cys | |
| XM_011528810.2:c.1118+42T>G | XP_011527112.1:n.1118+42T>G | |
| XM_011528811.2:c.1118+42T>G | XP_011527113.1:n.1118+42T>G | |
| XM_017027841.2:c.1118+42T>G | XP_016883330.1:n.1118+42T>G | |
| XM_017027842.2:c.1118+42T>G | XP_016883331.1:n.1118+42T>G | |
| XM_017027843.1:c.1049+42T>G | XP_016883332.1:n.1049+42T>G | |
| XM_017027844.2:c.1118+42T>G | XP_016883333.1:n.1118+42T>G | |
| NM_004518.6:c.1118+42T>G | NP_004509.2:n.1118+42T>G | |
| NM_172106.3:c.1118+42T>G | NP_742104.1:n.1118+42T>G | |
| NM_172107.4:c.1118+42T>G MANE Select | NP_742105.1:n.1118+42T>G | |
| NM_172108.5:c.1118+42T>G | NP_742106.1:n.1118+42T>G | |
| NM_172109.3:c.1160T>G | NP_742107.1:p.Phe387Cys | |
| NM_001382235.1:c.1118+42T>G | NP_001369164.1:n.1118+42T>G |