Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49157860C= , CM000681.2:g.49157860C= | GRCh38 |
| NC_000019.9:g.49661117C= , CM000681.1:g.49661117C= | GRCh37 |
| NC_000019.8:g.54352929C= | NCBI36 |
| NG_027551.1:g.5102C= | |
| NG_027551.2:g.5102C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.-7C= MANE Select | ENSP00000252826.4:n.-7C= | |
| ENST00000252826.9:c.-7C= | ENSP00000252826.4:n.-7C= | |
| ENST00000427978.6:c.-7C= | ENSP00000407492.1:n.-7C= | |
| ENST00000595519.5:c.-7C= | ENSP00000469893.1:n.-7C= | |
| ENST00000596338.5:n.29C= | ||
| ENST00000598502.5:c.-7C= | ENSP00000470229.1:n.-7C= | |
| ENST00000598691.5:c.-7C= | ENSP00000473231.1:n.-7C= | |
| ENST00000598697.5:c.-7C= | ENSP00000468989.1:n.-7C= | |
| ENST00000599628.5:c.-7C= | ENSP00000483753.1:n.-7C= | |
| NM_001195227.1:c.-7C= | NP_001182156.1:n.-7C= | |
| NM_017636.3:c.-7C= | NP_060106.2:n.-7C= | |
| XM_011527046.1:c.-173C= | XP_011525348.1:n.-173C= | |
| NM_001321281.1:c.-7C= | NP_001308210.1:n.-7C= | |
| NM_001321282.1:c.-1379C= | NP_001308211.1:n.-1379C= | |
| NM_001321283.1:c.-173C= | NP_001308212.1:n.-173C= | |
| NM_001321285.1:c.-336C= | NP_001308214.1:n.-336C= | |
| NM_017636.4:c.-7C= MANE Select | NP_060106.2:n.-7C= | |
| NM_001195227.2:c.-7C= | NP_001182156.1:n.-7C= | |
| NM_001321281.2:c.-7C= | NP_001308210.1:n.-7C= | |
| NM_001321282.2:c.-1379C= | NP_001308211.1:n.-1379C= | |
| NM_001321283.2:c.-173C= | NP_001308212.1:n.-173C= | |
| NM_001321285.2:c.-336C= | NP_001308214.1:n.-336C= |