Linked Data
dbSNP Id:
rs9652490
gnomAD v2:
15-77963887-A-G
gnomAD v3:
15-77671545-A-G
gnomAD v4:
15-77671545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77671545A>G , CM000677.2:g.77671545A>G | GRCh38 |
| NC_000015.9:g.77963887A>G , CM000677.1:g.77963887A>G | GRCh37 |
| NC_000015.8:g.75750942A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559893.5:c.-13+5544T>C | ENSP00000454051.1:n.-13+5544T>C | |
| ENST00000561030.5:c.-13+5544T>C | ENSP00000453853.1:n.-13+5544T>C | |
| ENST00000561686.5:c.-13+19175T>C | ENSP00000455605.1:n.-13+19175T>C | |
| ENST00000562933.5:c.-13+5544T>C | ENSP00000456516.1:n.-13+5544T>C | |
| ENST00000563316.5:c.-13+5544T>C | ENSP00000457101.1:n.-13+5544T>C | |
| ENST00000564472.5:c.-13+5544T>C | ENSP00000454245.1:n.-13+5544T>C | |
| ENST00000566711.5:c.-13+5544T>C | ENSP00000454687.1:n.-13+5544T>C | |
| ENST00000567726.5:c.-13+5544T>C | ENSP00000454465.1:n.-13+5544T>C | |
| ENST00000570216.5:c.-13+5544T>C | ENSP00000454577.1:n.-13+5544T>C | |
| NM_001301186.1:c.-13+5544T>C | NP_001288115.1:n.-13+5544T>C | |
| NM_001301187.1:c.-13+5544T>C | NP_001288116.1:n.-13+5544T>C | |
| NM_001301189.1:c.-13+5544T>C | NP_001288118.1:n.-13+5544T>C | |
| NM_001301191.1:c.-13+5544T>C | NP_001288120.1:n.-13+5544T>C | |
| NM_001301192.1:c.-13+5544T>C | NP_001288121.1:n.-13+5544T>C | |
| NM_001301194.1:c.-13+5544T>C | NP_001288123.1:n.-13+5544T>C | |
| NM_001301195.1:c.-13+19175T>C | NP_001288124.1:n.-13+19175T>C | |
| NM_001301197.1:c.-13+5544T>C | NP_001288126.1:n.-13+5544T>C | |
| NM_001301198.1:c.-13+5544T>C | NP_001288127.1:n.-13+5544T>C | |
| NM_001301199.1:c.-13+5544T>C | NP_001288128.1:n.-13+5544T>C | |
| NM_001301200.1:c.-13+5544T>C | NP_001288129.1:n.-13+5544T>C | |
| XM_011522117.1:c.-13+5544T>C | XP_011520419.1:n.-13+5544T>C | |
| XM_011522118.1:c.-13+137T>C | XP_011520420.1:n.-13+137T>C | |
| XM_011522118.2:c.-13+137T>C | XP_011520420.1:n.-13+137T>C | |
| XM_017022682.1:c.-13+5544T>C | XP_016878171.1:n.-13+5544T>C | |
| XM_024450091.1:c.-13+5544T>C | XP_024305859.1:n.-13+5544T>C | |
| NM_001301189.2:c.-13+5544T>C | NP_001288118.1:n.-13+5544T>C | |
| NM_001301191.2:c.-13+5544T>C | NP_001288120.1:n.-13+5544T>C | |
| NM_001301192.2:c.-13+5544T>C | NP_001288121.1:n.-13+5544T>C | |
| NM_001301194.2:c.-13+5544T>C | NP_001288123.1:n.-13+5544T>C | |
| NM_001301195.2:c.-13+19175T>C | NP_001288124.1:n.-13+19175T>C | |
| NM_001301200.2:c.-13+5544T>C | NP_001288129.1:n.-13+5544T>C | |
| NM_001301186.2:c.-13+5544T>C | NP_001288115.1:n.-13+5544T>C | |
| NM_001301187.2:c.-13+5544T>C | NP_001288116.1:n.-13+5544T>C | |
| NM_001301197.2:c.-13+5544T>C | NP_001288126.1:n.-13+5544T>C | |
| NM_001301198.2:c.-13+5544T>C | NP_001288127.1:n.-13+5544T>C | |
| NM_001301199.2:c.-13+5544T>C | NP_001288128.1:n.-13+5544T>C |