Linked Data
gnomAD v4:
1-45500320-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500320T>C , CM000663.2:g.45500320T>C | GRCh38 |
| NC_000001.10:g.45965992T>C , CM000663.1:g.45965992T>C | GRCh37 |
| NC_000001.9:g.45738579T>C | NCBI36 |
| NG_013378.1:g.5137T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-13T>C MANE Select | ENSP00000383840.4:n.-13T>C | |
| ENST00000401061.8:c.-13T>C | ENSP00000383840.4:n.-13T>C | |
| NM_015506.2:c.-13T>C | NP_056321.2:n.-13T>C | |
| XM_005270724.3:c.-13T>C | XP_005270781.1:n.-13T>C | |
| NM_001330540.1:c.-235T>C | NP_001317469.1:n.-235T>C | |
| XM_005270724.5:c.-13T>C | XP_005270781.1:n.-13T>C | |
| NM_015506.3:c.-13T>C MANE Select | NP_056321.2:n.-13T>C | |
| NM_001330540.2:c.-235T>C | NP_001317469.1:n.-235T>C |