Linked Data
dbSNP Id:
rs12693973
gnomAD v2:
2-155171139-T-G
gnomAD v3:
2-154314627-T-G
gnomAD v4:
2-154314627-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.154314627T>G , CM000664.2:g.154314627T>G | GRCh38 |
| NC_000002.11:g.155171139T>G , CM000664.1:g.155171139T>G | GRCh37 |
| NC_000002.10:g.154879385T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392825.8:c.1156+13038T>G MANE Select | ENSP00000376570.3:n.1156+13038T>G | |
| ENST00000392825.7:c.1156+13038T>G | ENSP00000376570.3:n.1156+13038T>G | |
| ENST00000409237.5:c.1156+13038T>G | ENSP00000387239.1:n.1156+13038T>G | |
| ENST00000431076.5:c.1145+13038T>G | ||
| ENST00000450838.5:c.11+13038T>G | ||
| ENST00000487047.1:n.458+13038T>G | ||
| NM_001301627.1:c.1156+13038T>G | NP_001288556.1:n.1156+13038T>G | |
| NM_052917.3:c.1156+13038T>G | NP_443149.2:n.1156+13038T>G | |
| XM_011510537.1:c.1156+13038T>G | XP_011508839.1:n.1156+13038T>G | |
| XM_011510538.1:c.613+13038T>G | XP_011508840.1:n.613+13038T>G | |
| XM_011510537.3:c.1156+13038T>G | XP_011508839.1:n.1156+13038T>G | |
| XM_011510538.2:c.613+13038T>G | XP_011508840.1:n.613+13038T>G | |
| XM_017003258.1:c.1156+13038T>G | XP_016858747.1:n.1156+13038T>G | |
| XM_017003259.1:c.1156+13038T>G | XP_016858748.1:n.1156+13038T>G | |
| XM_017003260.2:c.1156+13038T>G | XP_016858749.1:n.1156+13038T>G | |
| XM_017003261.1:c.1156+13038T>G | XP_016858750.1:n.1156+13038T>G | |
| XM_017003262.1:c.613+13038T>G | XP_016858751.1:n.613+13038T>G | |
| XM_024452643.1:c.613+13038T>G | XP_024308411.1:n.613+13038T>G | |
| XR_001738598.2:n.1596+13038T>G | ||
| XR_001738599.2:n.1596+13038T>G | ||
| NM_052917.4:c.1156+13038T>G MANE Select | NP_443149.2:n.1156+13038T>G | |
| NM_001301627.2:c.1156+13038T>G | NP_001288556.1:n.1156+13038T>G | |
| NM_001376392.1:c.1156+13038T>G | NP_001363321.1:n.1156+13038T>G | |
| NM_001376394.1:c.1156+13038T>G | NP_001363323.1:n.1156+13038T>G | |
| NM_001376398.1:c.1156+13038T>G | NP_001363327.1:n.1156+13038T>G | |
| NM_001376400.1:c.1156+13038T>G | NP_001363329.1:n.1156+13038T>G | |
| NM_001376401.1:c.1156+13038T>G | NP_001363330.1:n.1156+13038T>G | |
| NM_001376402.1:c.1156+13038T>G | NP_001363331.1:n.1156+13038T>G | |
| NM_001376403.1:c.1156+13038T>G | NP_001363332.1:n.1156+13038T>G | |
| NM_001376404.1:c.1156+13038T>G | NP_001363333.1:n.1156+13038T>G | |
| NM_001376405.1:c.1038+13038T>G | NP_001363334.1:n.1038+13038T>G |