Linked Data
dbSNP Id:
rs768227690
ExAC:
3:49064163 C / T
gnomAD v2:
3-49064163-C-T
gnomAD v4:
3-49026730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026730C>T , CM000665.2:g.49026730C>T | GRCh38 |
| NC_000003.11:g.49064163C>T , CM000665.1:g.49064163C>T | GRCh37 |
| NC_000003.10:g.49039167C>T | NCBI36 |
| NG_012091.1:g.7713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2816G>A | ENSP00000515567.1:p.Arg939Lys | |
| ENST00000703937.1:c.*1877G>A | ENSP00000515568.1:n.*1877G>A | |
| ENST00000326739.9:c.776G>A MANE Select | ENSP00000321584.4:p.Arg259Lys | |
| ENST00000429182.6:c.776G>A | ENSP00000393525.2:p.Arg259Lys | |
| ENST00000442157.2:c.701G>A | ENSP00000403502.2:p.Arg234Lys | |
| ENST00000462980.2:n.1291G>A | ||
| ENST00000472328.2:n.842G>A | ||
| ENST00000491610.2:n.736G>A | ||
| ENST00000676607.1:n.1072G>A | ||
| ENST00000676627.1:n.1506G>A | ||
| ENST00000676708.1:n.2056G>A | ||
| ENST00000676864.1:n.1925G>A | ||
| ENST00000677010.1:c.812G>A | ENSP00000503089.1:p.Arg271Lys | |
| ENST00000677108.1:n.2682G>A | ||
| ENST00000677168.1:n.1248G>A | ||
| ENST00000677185.1:n.1339G>A | ||
| ENST00000677205.1:n.1560G>A | ||
| ENST00000677344.1:n.2050G>A | ||
| ENST00000677480.1:c.*453G>A | ENSP00000504378.1:n.*453G>A | |
| ENST00000677519.1:n.1486G>A | ||
| ENST00000677593.1:n.1332G>A | ||
| ENST00000677740.1:n.2281G>A | ||
| ENST00000677991.1:n.1949G>A | ||
| ENST00000678001.1:n.1269G>A | ||
| ENST00000678085.1:n.1332G>A | ||
| ENST00000678177.1:n.2625G>A | ||
| ENST00000678603.1:n.1854G>A | ||
| ENST00000678724.1:c.701G>A | ENSP00000503874.1:p.Arg234Lys | |
| ENST00000678920.1:n.934G>A | ||
| ENST00000679019.1:n.1546G>A | ||
| ENST00000679117.1:c.*591G>A | ENSP00000503240.1:n.*591G>A | |
| ENST00000679339.1:n.1617G>A | ||
| ENST00000326739.8:c.776G>A | ENSP00000321584.4:p.Arg259Lys | |
| ENST00000429182.5:c.570G>A | ||
| ENST00000442157.1:c.701G>A | ENSP00000403502.1:p.Arg234Lys | |
| ENST00000462980.1:n.678G>A | ||
| ENST00000491610.1:n.736G>A | ||
| NM_000884.2:c.776G>A | NP_000875.2:p.Arg259Lys | |
| XM_006713128.2:c.986G>A | XP_006713191.1:p.Arg329Lys | |
| XM_006713128.3:c.986G>A | XP_006713191.1:p.Arg329Lys | |
| XM_017006349.1:c.911G>A | XP_016861838.1:p.Arg304Lys | |
| XM_017006350.1:c.911G>A | XP_016861839.1:p.Arg304Lys | |
| NM_000884.3:c.776G>A MANE Select | NP_000875.2:p.Arg259Lys |