Linked Data
dbSNP Id:
rs1281896615
gnomAD v2:
4-88755676-T-C
gnomAD v3:
4-87834524-T-C
gnomAD v4:
4-87834524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87834524T>C , CM000666.2:g.87834524T>C | GRCh38 |
| NC_000004.11:g.88755676T>C , CM000666.1:g.88755676T>C | GRCh37 |
| NC_000004.10:g.88974700T>C | NCBI36 |
| NG_034073.1:g.18127T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361056.4:c.-12-179T>C MANE Select | ENSP00000354341.3:n.-12-179T>C | |
| ENST00000424957.8:c.-12-179T>C | ENSP00000416984.3:n.-12-179T>C | |
| ENST00000560249.6:c.-12-179T>C | ENSP00000453994.2:n.-12-179T>C | |
| ENST00000361056.3:c.-12-179T>C | ENSP00000354341.3:n.-12-179T>C | |
| ENST00000395102.8:c.-12-179T>C | ENSP00000378534.4:n.-12-179T>C | |
| ENST00000424957.7:c.-12-179T>C | ENSP00000416984.3:n.-12-179T>C | |
| ENST00000497649.6:c.-313-179T>C | ENSP00000422747.1:n.-313-179T>C | |
| ENST00000508016.5:n.47-179T>C | ||
| ENST00000511670.5:c.-12-179T>C | ENSP00000421430.1:n.-12-179T>C | |
| ENST00000515821.5:n.47-179T>C | ||
| ENST00000540395.1:c.-479-179T>C | ENSP00000443491.1:n.-479-179T>C | |
| ENST00000560249.5:c.-550-179T>C | ENSP00000453994.1:n.-550-179T>C | |
| NM_001184694.2:c.-12-179T>C | NP_001171623.1:n.-12-179T>C | |
| NM_001184695.1:c.-457-179T>C | NP_001171624.1:n.-457-179T>C | |
| NM_001184696.1:c.-479-179T>C | NP_001171625.1:n.-479-179T>C | |
| NM_001184697.1:c.-550-179T>C | NP_001171626.1:n.-550-179T>C | |
| NM_020203.3:c.-12-179T>C | NP_064588.1:n.-12-179T>C | |
| XM_006714278.1:c.-12-179T>C | XP_006714341.1:n.-12-179T>C | |
| XM_006714278.2:c.-12-179T>C | XP_006714341.1:n.-12-179T>C | |
| NM_001184695.2:c.-457-179T>C | NP_001171624.1:n.-457-179T>C | |
| NM_020203.4:c.-12-179T>C | NP_064588.1:n.-12-179T>C | |
| NM_001184694.3:c.-12-179T>C | NP_001171623.1:n.-12-179T>C | |
| NM_001184695.4:c.-457-179T>C | NP_001171624.1:n.-457-179T>C | |
| NM_001184696.2:c.-479-179T>C | NP_001171625.1:n.-479-179T>C | |
| NM_001184697.2:c.-550-179T>C | NP_001171626.1:n.-550-179T>C | |
| NM_001291183.2:c.-12-179T>C | NP_001278112.1:n.-12-179T>C | |
| NM_020203.6:c.-12-179T>C MANE Select | NP_064588.1:n.-12-179T>C |