Linked Data
gnomAD v4:
17-14208670-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208670T>C , CM000679.2:g.14208670T>C | GRCh38 |
| NC_000017.10:g.14111987T>C , CM000679.1:g.14111987T>C | GRCh37 |
| NC_000017.9:g.14052712T>C | NCBI36 |
| NG_008034.1:g.144269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.*1457T>C MANE Select | ENSP00000261643.3:n.*1457T>C | |
| ENST00000664217.1:c.*172T>C | ENSP00000499396.1:n.*172T>C | |
| ENST00000670279.1:c.929-839T>C | ENSP00000499450.1:n.929-839T>C | |
| ENST00000261643.7:c.*1457T>C | ENSP00000261643.3:n.*1457T>C | |
| NM_001303.3:c.*1457T>C | NP_001294.2:n.*1457T>C | |
| XM_011523658.1:c.*1457T>C | XP_011521960.1:n.*1457T>C | |
| XR_933974.1:n.1032-839T>C | ||
| NM_001303.4:c.*1457T>C MANE Select | NP_001294.2:n.*1457T>C |