Linked Data
dbSNP Id:
rs12588287
gnomAD v2:
14-92536959-T-C
gnomAD v3:
14-92070615-T-C
gnomAD v4:
14-92070615-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92070615T>C , CM000676.2:g.92070615T>C | GRCh38 |
| NC_000014.8:g.92536959T>C , CM000676.1:g.92536959T>C | GRCh37 |
| NC_000014.7:g.91606712T>C | NCBI36 |
| NG_008198.2:g.41007A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359366.10:c.*665+320A>G | ENSP00000352324.5:n.*665+320A>G | |
| ENST00000644486.2:c.991+320A>G MANE Select | ENSP00000496695.1:n.991+320A>G | |
| ENST00000647161.1:c.991+320A>G | ENSP00000493680.1:n.991+320A>G | |
| ENST00000340660.10:c.826+320A>G | ENSP00000339110.6:n.826+320A>G | |
| ENST00000359366.9:c.*665+320A>G | ENSP00000352324.5:n.*665+320A>G | |
| ENST00000393287.9:c.838+320A>G | ENSP00000376965.6:n.838+320A>G | |
| ENST00000429774.6:c.781+320A>G | ENSP00000389376.3:n.781+320A>G | |
| ENST00000502250.5:c.454+320A>G | ENSP00000425322.1:n.454+320A>G | |
| ENST00000503767.5:c.946+320A>G | ENSP00000426697.1:n.946+320A>G | |
| ENST00000526245.1:n.117-11828A>G | ||
| ENST00000545170.5:c.1018+320A>G | ENSP00000445618.2:n.1018+320A>G | |
| ENST00000558190.5:c.991+320A>G | ENSP00000478320.1:n.991+320A>G | |
| ENST00000624063.1:c.25+361T>C | ENSP00000485197.1:n.25+361T>C | |
| NM_001127696.1:c.946+320A>G | NP_001121168.1:n.946+320A>G | |
| NM_001127697.2:c.838+320A>G | NP_001121169.2:n.838+320A>G | |
| NM_001164774.1:c.*41+320A>G | NP_001158246.1:n.*41+320A>G | |
| NM_001164776.1:c.*41+320A>G | NP_001158248.1:n.*41+320A>G | |
| NM_001164777.1:c.*41+320A>G | NP_001158249.1:n.*41+320A>G | |
| NM_001164778.1:c.*41+320A>G | NP_001158250.1:n.*41+320A>G | |
| NM_001164779.1:c.628+320A>G | NP_001158251.1:n.628+320A>G | |
| NM_001164780.1:c.454+320A>G | NP_001158252.1:n.454+320A>G | |
| NM_001164781.1:c.781+320A>G | NP_001158253.1:n.781+320A>G | |
| NM_001164782.1:c.*41+320A>G | NP_001158254.1:n.*41+320A>G | |
| NM_004993.5:c.991+320A>G | NP_004984.2:n.991+320A>G | |
| NM_030660.4:c.826+320A>G | NP_109376.1:n.826+320A>G | |
| NR_028453.1:n.974+320A>G | ||
| NR_028454.1:n.809+320A>G | ||
| NR_028455.1:n.1028+320A>G | ||
| NR_028456.1:n.863+320A>G | ||
| NR_028457.1:n.1119+320A>G | ||
| NR_028458.1:n.963+320A>G | ||
| NR_028459.1:n.1114+320A>G | ||
| NR_028460.1:n.489+320A>G | ||
| NR_028461.1:n.972+320A>G | ||
| NR_028462.1:n.951+320A>G | ||
| NR_028463.1:n.663+320A>G | ||
| NR_028464.1:n.961+320A>G | ||
| NR_028465.1:n.983+320A>G | ||
| NR_028466.1:n.609+320A>G | ||
| NR_028467.1:n.975+320A>G | ||
| NR_028468.1:n.807+320A>G | ||
| NR_028469.1:n.821+320A>G | ||
| NR_028470.1:n.279+320A>G | ||
| NR_031765.1:n.476+320A>G | ||
| NM_001127696.2:c.946+320A>G | NP_001121168.1:n.946+320A>G | |
| NM_001164774.2:c.*41+320A>G | NP_001158246.1:n.*41+320A>G | |
| NM_001164776.2:c.*41+320A>G | NP_001158248.1:n.*41+320A>G | |
| NM_001164777.2:c.*41+320A>G | NP_001158249.1:n.*41+320A>G | |
| NM_001164778.2:c.*41+320A>G | NP_001158250.1:n.*41+320A>G | |
| NM_001164779.2:c.628+320A>G | NP_001158251.1:n.628+320A>G | |
| NM_001164780.2:c.454+320A>G | NP_001158252.1:n.454+320A>G | |
| NM_001164782.2:c.*41+320A>G | NP_001158254.1:n.*41+320A>G | |
| NM_004993.6:c.991+320A>G MANE Select | NP_004984.2:n.991+320A>G | |
| NM_030660.5:c.826+320A>G | NP_109376.1:n.826+320A>G | |
| NR_028453.2:n.935+320A>G | ||
| NR_028454.2:n.770+320A>G | ||
| NR_028455.2:n.989+320A>G | ||
| NR_028456.2:n.824+320A>G | ||
| NR_028457.2:n.1080+320A>G | ||
| NR_028458.2:n.924+320A>G | ||
| NR_028459.2:n.1075+320A>G | ||
| NR_028460.2:n.450+320A>G | ||
| NR_028461.2:n.933+320A>G | ||
| NR_028462.2:n.912+320A>G | ||
| NR_028463.2:n.624+320A>G | ||
| NR_028464.2:n.922+320A>G | ||
| NR_028465.2:n.944+320A>G | ||
| NR_028466.2:n.570+320A>G | ||
| NR_028467.2:n.936+320A>G | ||
| NR_028468.2:n.768+320A>G | ||
| NR_028469.2:n.782+320A>G | ||
| NR_028470.2:n.240+320A>G | ||
| NR_031765.2:n.437+320A>G | ||
| NM_001127697.3:c.838+320A>G | NP_001121169.2:n.838+320A>G | |
| NM_001164781.2:c.781+320A>G | NP_001158253.1:n.781+320A>G |