Linked Data
dbSNP Id:
rs1247531813
gnomAD v2:
19-6713859-C-T
gnomAD v3:
19-6713848-C-T
gnomAD v4:
19-6713848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713848C>T , CM000681.2:g.6713848C>T | GRCh38 |
| NC_000019.9:g.6713859C>T , CM000681.1:g.6713859C>T | GRCh37 |
| NC_000019.8:g.6664859C>T | NCBI36 |
| NG_009557.1:g.11804G>A , LRG_27:g.11804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+144G>A | ENSP00000512083.1:n.650+144G>A | |
| ENST00000245907.11:c.773+144G>A MANE Select | ENSP00000245907.4:n.773+144G>A | |
| ENST00000245907.10:c.773+144G>A | ENSP00000245907.4:n.773+144G>A | |
| ENST00000595577.1:n.277+144G>A | ||
| NM_000064.3:c.773+144G>A | NP_000055.2:n.773+144G>A | |
| NM_000064.4:c.773+144G>A MANE Select | NP_000055.2:n.773+144G>A |