Linked Data
dbSNP Id:
rs11466314
ExAC:
19:41860236 C / T
gnomAD v2:
19-41860236-C-T
gnomAD v3:
19-41354331-C-T
gnomAD v4:
19-41354331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41354331C>T , CM000681.2:g.41354331C>T | GRCh38 |
| NC_000019.9:g.41860236C>T , CM000681.1:g.41860236C>T | GRCh37 |
| NC_000019.8:g.46552076C>T | NCBI36 |
| NG_013091.1:g.14843G>A | |
| NG_013364.1:g.4596G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539627.5:c.-30+3129C>T | ENSP00000441900.1:n.-30+3129C>T | |
| ENST00000604123.5:c.142+16C>T | ENSP00000474871.1:n.142+16C>T | |
| ENST00000604424.1:n.350+3129C>T |