Linked Data
dbSNP Id:
rs17599416
gnomAD v2:
4-46973438-A-G
gnomAD v3:
4-46971421-A-G
gnomAD v4:
4-46971421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46971421A>G , CM000666.2:g.46971421A>G | GRCh38 |
| NC_000004.11:g.46973438A>G , CM000666.1:g.46973438A>G | GRCh37 |
| NC_000004.10:g.46668195A>G | NCBI36 |
| NG_011809.1:g.27143T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264318.4:c.722-186T>C MANE Select | ENSP00000264318.3:n.722-186T>C | |
| ENST00000264318.3:c.722-186T>C | ENSP00000264318.3:n.722-186T>C | |
| ENST00000502874.1:c.*492-186T>C | ENSP00000424386.1:n.*492-186T>C | |
| ENST00000508560.5:c.*543-186T>C | ENSP00000425445.1:n.*543-186T>C | |
| ENST00000511523.5:c.*542+2811T>C | ENSP00000422152.1:n.*542+2811T>C | |
| NM_000809.3:c.722-186T>C | NP_000800.2:n.722-186T>C | |
| NM_001204266.1:c.665-186T>C | NP_001191195.1:n.665-186T>C | |
| NM_001204267.1:c.664+2811T>C | NP_001191196.1:n.664+2811T>C | |
| XM_011513677.1:c.721+2811T>C | XP_011511979.1:n.721+2811T>C | |
| NM_000809.4:c.722-186T>C MANE Select | NP_000800.2:n.722-186T>C | |
| NM_001204266.2:c.665-186T>C | NP_001191195.1:n.665-186T>C | |
| NM_001204267.2:c.664+2811T>C | NP_001191196.1:n.664+2811T>C |