Linked Data
dbSNP Id:
rs11856808
gnomAD v2:
15-77972770-C-T
gnomAD v3:
15-77680428-C-T
gnomAD v4:
15-77680428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77680428C>T , CM000677.2:g.77680428C>T | GRCh38 |
| NC_000015.9:g.77972770C>T , CM000677.1:g.77972770C>T | GRCh37 |
| NC_000015.8:g.75759825C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559893.5:c.-98-3254G>A | ENSP00000454051.1:n.-98-3254G>A | |
| ENST00000561030.5:c.-98-3254G>A | ENSP00000453853.1:n.-98-3254G>A | |
| ENST00000561686.5:c.-13+10292G>A | ENSP00000455605.1:n.-13+10292G>A | |
| ENST00000562933.5:c.-98-3254G>A | ENSP00000456516.1:n.-98-3254G>A | |
| ENST00000563316.5:c.-98-3254G>A | ENSP00000457101.1:n.-98-3254G>A | |
| ENST00000564066.1:n.551-3254G>A | ||
| ENST00000564472.5:c.-98-3254G>A | ENSP00000454245.1:n.-98-3254G>A | |
| ENST00000566711.5:c.-98-3254G>A | ENSP00000454687.1:n.-98-3254G>A | |
| ENST00000567605.5:n.618-3254G>A | ||
| ENST00000567726.5:c.-98-3254G>A | ENSP00000454465.1:n.-98-3254G>A | |
| ENST00000568951.5:n.436-3254G>A | ||
| ENST00000570216.5:c.-98-3254G>A | ENSP00000454577.1:n.-98-3254G>A | |
| NM_001301186.1:c.-98-3254G>A | NP_001288115.1:n.-98-3254G>A | |
| NM_001301187.1:c.-98-3254G>A | NP_001288116.1:n.-98-3254G>A | |
| NM_001301189.1:c.-98-3254G>A | NP_001288118.1:n.-98-3254G>A | |
| NM_001301191.1:c.-98-3254G>A | NP_001288120.1:n.-98-3254G>A | |
| NM_001301192.1:c.-98-3254G>A | NP_001288121.1:n.-98-3254G>A | |
| NM_001301194.1:c.-98-3254G>A | NP_001288123.1:n.-98-3254G>A | |
| NM_001301195.1:c.-13+10292G>A | NP_001288124.1:n.-13+10292G>A | |
| NM_001301197.1:c.-98-3254G>A | NP_001288126.1:n.-98-3254G>A | |
| NM_001301198.1:c.-98-3254G>A | NP_001288127.1:n.-98-3254G>A | |
| NM_001301199.1:c.-98-3254G>A | NP_001288128.1:n.-98-3254G>A | |
| NM_001301200.1:c.-98-3254G>A | NP_001288129.1:n.-98-3254G>A | |
| XM_011522117.1:c.-98-3254G>A | XP_011520419.1:n.-98-3254G>A | |
| XM_017022682.1:c.-98-3254G>A | XP_016878171.1:n.-98-3254G>A | |
| XM_024450091.1:c.-98-3254G>A | XP_024305859.1:n.-98-3254G>A | |
| NM_001301189.2:c.-98-3254G>A | NP_001288118.1:n.-98-3254G>A | |
| NM_001301191.2:c.-98-3254G>A | NP_001288120.1:n.-98-3254G>A | |
| NM_001301192.2:c.-98-3254G>A | NP_001288121.1:n.-98-3254G>A | |
| NM_001301194.2:c.-98-3254G>A | NP_001288123.1:n.-98-3254G>A | |
| NM_001301195.2:c.-13+10292G>A | NP_001288124.1:n.-13+10292G>A | |
| NM_001301200.2:c.-98-3254G>A | NP_001288129.1:n.-98-3254G>A | |
| NM_001301186.2:c.-98-3254G>A | NP_001288115.1:n.-98-3254G>A | |
| NM_001301187.2:c.-98-3254G>A | NP_001288116.1:n.-98-3254G>A | |
| NM_001301197.2:c.-98-3254G>A | NP_001288126.1:n.-98-3254G>A | |
| NM_001301198.2:c.-98-3254G>A | NP_001288127.1:n.-98-3254G>A | |
| NM_001301199.2:c.-98-3254G>A | NP_001288128.1:n.-98-3254G>A |