Linked Data
gnomAD v4:
1-17018851-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018851G>T , CM000663.2:g.17018851G>T | GRCh38 |
| NC_000001.10:g.17345346G>T , CM000663.1:g.17345346G>T | GRCh37 |
| NC_000001.9:g.17217933G>T | NCBI36 |
| NG_012340.1:g.40320C>A , LRG_316:g.40320C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.*30C>A | ENSP00000481376.2:n.*30C>A | |
| ENST00000491274.6:c.*30C>A | ENSP00000480482.2:n.*30C>A | |
| ENST00000375499.8:c.*30C>A MANE Select | ENSP00000364649.3:n.*30C>A | |
| ENST00000375499.7:c.*30C>A | ENSP00000364649.3:n.*30C>A | |
| ENST00000475049.5:n.298C>A | ||
| ENST00000485092.5:n.537C>A | ||
| NM_003000.2:c.*30C>A , LRG_316t1:c.*30C>A | NP_002991.2:n.*30C>A | |
| NM_003000.3:c.*30C>A MANE Select | NP_002991.2:n.*30C>A |