Linked Data
dbSNP Id:
rs748494042
ExAC:
19:7593936 C / T
gnomAD v2:
19-7593936-C-T
gnomAD v4:
19-7529050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529050C>T , CM000681.2:g.7529050C>T | GRCh38 |
| NC_000019.9:g.7593936C>T , CM000681.1:g.7593936C>T | GRCh37 |
| NC_000019.8:g.7499936C>T | NCBI36 |
| NG_015806.1:g.11441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1135-51C>T MANE Select | ENSP00000264079.5:n.1135-51C>T | |
| ENST00000264079.10:c.1135-51C>T | ENSP00000264079.5:n.1135-51C>T | |
| ENST00000394321.9:n.1450-51C>T | ||
| ENST00000594692.1:n.80C>T | ||
| ENST00000595860.5:n.318-51C>T | ||
| ENST00000599334.1:c.12-51C>T | ||
| NM_020533.2:c.1135-51C>T | NP_065394.1:n.1135-51C>T | |
| NM_020533.3:c.1135-51C>T MANE Select | NP_065394.1:n.1135-51C>T |