Linked Data
dbSNP Id:
rs376251815
ExAC:
19:7591540 C / T
gnomAD v2:
19-7591540-C-T
gnomAD v3:
19-7526654-C-T
gnomAD v4:
19-7526654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526654C>T , CM000681.2:g.7526654C>T | GRCh38 |
| NC_000019.9:g.7591540C>T , CM000681.1:g.7591540C>T | GRCh37 |
| NC_000019.8:g.7497540C>T | NCBI36 |
| NG_015806.1:g.9045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.405+48C>T MANE Select | ENSP00000264079.5:n.405+48C>T | |
| ENST00000264079.10:c.405+48C>T | ENSP00000264079.5:n.405+48C>T | |
| ENST00000394321.9:n.485+48C>T | ||
| ENST00000596008.1:n.367+48C>T | ||
| ENST00000598406.1:n.226+48C>T | ||
| ENST00000601003.1:c.405+48C>T | ENSP00000469074.1:n.405+48C>T | |
| NM_020533.2:c.405+48C>T | NP_065394.1:n.405+48C>T | |
| NM_020533.3:c.405+48C>T MANE Select | NP_065394.1:n.405+48C>T |