Linked Data
gnomAD v4:
5-14871459-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871459T>G , CM000667.2:g.14871459T>G | GRCh38 |
| NC_000005.9:g.14871568T>G , CM000667.1:g.14871568T>G | GRCh37 |
| NC_000005.8:g.14924568T>G | NCBI36 |
| NG_008273.1:g.5320A>C | |
| NG_008273.2:g.5327A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.-12A>C MANE Select | ENSP00000284268.6:n.-12A>C | |
| ENST00000284268.6:c.-12A>C | ENSP00000284268.6:n.-12A>C | |
| ENST00000505140.1:c.-12A>C | ENSP00000426332.1:n.-12A>C | |
| ENST00000513115.1:n.14A>C | ||
| NM_054027.4:c.-12A>C | NP_473368.1:n.-12A>C | |
| XM_011514067.1:c.-12A>C | XP_011512369.1:n.-12A>C | |
| NM_054027.5:c.-12A>C | NP_473368.1:n.-12A>C | |
| NM_054027.6:c.-12A>C MANE Select | NP_473368.1:n.-12A>C |