Linked Data
dbSNP Id:
rs12386026
gnomAD v2:
16-82817591-C-T
gnomAD v3:
16-82783986-C-T
gnomAD v4:
16-82783986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82783986C>T , CM000678.2:g.82783986C>T | GRCh38 |
| NC_000016.9:g.82817591C>T , CM000678.1:g.82817591C>T | GRCh37 |
| NC_000016.8:g.81375092C>T | NCBI36 |
| NG_052819.1:g.162193C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.46-74376C>T MANE Select | ENSP00000479395.1:n.46-74376C>T | |
| ENST00000268613.14:c.187-74376C>T | ENSP00000268613.10:n.187-74376C>T | |
| ENST00000428848.7:c.46-74376C>T | ENSP00000394557.3:n.46-74376C>T | |
| ENST00000431540.7:c.46-74376C>T | ENSP00000408632.3:n.46-74376C>T | |
| ENST00000539548.6:c.46-74376C>T | ENSP00000442225.2:n.46-74376C>T | |
| ENST00000562601.5:c.*55-74376C>T | ENSP00000455781.1:n.*55-74376C>T | |
| ENST00000565636.5:c.46-74376C>T | ENSP00000456491.1:n.46-74376C>T | |
| ENST00000566333.1:n.168-74376C>T | ||
| ENST00000567109.5:c.46-74376C>T | ENSP00000479395.1:n.46-74376C>T | |
| ENST00000567445.1:c.46-74376C>T | ENSP00000456297.1:n.46-74376C>T | |
| ENST00000568770.5:c.*45+64511C>T | ENSP00000457149.1:n.*45+64511C>T | |
| ENST00000569144.5:c.46-74376C>T | ENSP00000457914.1:n.46-74376C>T | |
| NM_001220488.1:c.187-74376C>T | NP_001207417.1:n.187-74376C>T | |
| NM_001220489.1:c.46-74376C>T | NP_001207418.1:n.46-74376C>T | |
| NM_001220490.1:c.-508-74376C>T | NP_001207419.1:n.-508-74376C>T | |
| NM_001220491.1:c.46-74376C>T | NP_001207420.1:n.46-74376C>T | |
| NM_001220492.1:c.46-74376C>T | NP_001207421.1:n.46-74376C>T | |
| NM_001257.4:c.46-74376C>T | NP_001248.1:n.46-74376C>T | |
| NR_110938.1:n.171+10497C>T | ||
| XM_011522805.1:c.187-74376C>T | XP_011521107.1:n.187-74376C>T | |
| XM_017022848.2:c.187-74376C>T | XP_016878337.1:n.187-74376C>T | |
| XM_017022849.2:c.187-74376C>T | XP_016878338.1:n.187-74376C>T | |
| NM_001257.5:c.46-74376C>T MANE Select | NP_001248.1:n.46-74376C>T | |
| NM_001220488.2:c.187-74376C>T | NP_001207417.1:n.187-74376C>T | |
| NM_001220489.2:c.46-74376C>T | NP_001207418.1:n.46-74376C>T | |
| NM_001220490.2:c.-508-74376C>T | NP_001207419.1:n.-508-74376C>T | |
| NM_001220491.2:c.46-74376C>T | NP_001207420.1:n.46-74376C>T | |
| NM_001220492.2:c.46-74376C>T | NP_001207421.1:n.46-74376C>T |