Linked Data
gnomAD v4:
10-94775650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775650T>C , CM000672.2:g.94775650T>C | GRCh38 |
| NC_000010.10:g.96535407T>C , CM000672.1:g.96535407T>C | GRCh37 |
| NC_000010.9:g.96525397T>C | NCBI36 |
| NG_008384.2:g.17945T>C | |
| NG_008384.3:g.17970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.481+111T>C MANE Select | ENSP00000360372.3:n.481+111T>C | |
| ENST00000645461.1:n.1534+111T>C | ||
| ENST00000371321.7:c.481+111T>C | ENSP00000360372.3:n.481+111T>C | |
| ENST00000464755.1:c.1244+111T>C | ENSP00000483243.1:n.1244+111T>C | |
| ENST00000480405.2:c.*103T>C | ENSP00000483847.1:n.*103T>C | |
| NM_000769.2:c.481+111T>C | NP_000760.1:n.481+111T>C | |
| NM_000769.4:c.481+111T>C MANE Select | NP_000760.1:n.481+111T>C |