Linked Data
dbSNP Id:
rs11097912
gnomAD v2:
4-107000462-C-T
gnomAD v3:
4-106079305-C-T
gnomAD v4:
4-106079305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106079305C>T , CM000666.2:g.106079305C>T | GRCh38 |
| NC_000004.11:g.107000462C>T , CM000666.1:g.107000462C>T | GRCh37 |
| NC_000004.10:g.107219911C>T | NCBI36 |
| NG_034057.2:g.247191G>A | |
| NG_034057.3:g.242379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273980.10:c.2571+16177G>A | ENSP00000273980.4:n.2571+16177G>A | |
| ENST00000394708.7:c.2571+16177G>A MANE Select | ENSP00000378198.2:n.2571+16177G>A | |
| ENST00000273980.9:c.2571+16177G>A | ENSP00000273980.4:n.2571+16177G>A | |
| ENST00000361687.8:c.2382+16177G>A | ENSP00000355338.4:n.2382+16177G>A | |
| ENST00000394706.7:c.2454+16177G>A | ENSP00000378196.3:n.2454+16177G>A | |
| ENST00000394708.6:c.2571+16177G>A | ENSP00000378198.2:n.2571+16177G>A | |
| ENST00000432496.6:c.2571+16177G>A | ENSP00000405847.2:n.2571+16177G>A | |
| ENST00000467183.6:c.*2210+16177G>A | ENSP00000421182.1:n.*2210+16177G>A | |
| ENST00000510927.5:n.2224+16177G>A | ||
| NM_001163435.2:c.2571+16177G>A | NP_001156907.1:n.2571+16177G>A | |
| NM_001163436.2:c.2571+16177G>A | NP_001156908.1:n.2571+16177G>A | |
| NM_001163437.2:c.2454+16177G>A | NP_001156909.1:n.2454+16177G>A | |
| NM_001290768.1:c.2055+16177G>A | NP_001277697.1:n.2055+16177G>A | |
| NM_033115.4:c.2382+16177G>A | NP_149106.2:n.2382+16177G>A | |
| XM_011532417.1:c.2571+16177G>A | XP_011530719.1:n.2571+16177G>A | |
| XM_011532418.1:c.2253+16177G>A | XP_011530720.1:n.2253+16177G>A | |
| XM_011532419.1:c.2055+16177G>A | XP_011530721.1:n.2055+16177G>A | |
| XM_011532417.2:c.2571+16177G>A | XP_011530719.1:n.2571+16177G>A | |
| XM_017008846.1:c.2571+16177G>A | XP_016864335.1:n.2571+16177G>A | |
| XM_017008848.1:c.2253+16177G>A | XP_016864337.1:n.2253+16177G>A | |
| XM_017008849.1:c.2055+16177G>A | XP_016864338.1:n.2055+16177G>A | |
| XM_024454281.1:c.2571+16177G>A | XP_024310049.1:n.2571+16177G>A | |
| XM_024454282.1:c.2571+16177G>A | XP_024310050.1:n.2571+16177G>A | |
| XR_002959772.1:n.2765+16177G>A | ||
| NM_001163435.3:c.2571+16177G>A MANE Select | NP_001156907.2:n.2571+16177G>A | |
| NM_001163436.4:c.2571+16177G>A | NP_001156908.2:n.2571+16177G>A | |
| NM_001163437.3:c.2454+16177G>A | NP_001156909.2:n.2454+16177G>A | |
| NM_001290768.2:c.2055+16177G>A | NP_001277697.2:n.2055+16177G>A | |
| NM_033115.5:c.2382+16177G>A | NP_149106.3:n.2382+16177G>A |