Linked Data
dbSNP Id:
rs377240996
ExAC:
19:6714097 G / T
gnomAD v2:
19-6714097-G-T
gnomAD v3:
19-6714086-G-T
gnomAD v4:
19-6714086-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714086G>T , CM000681.2:g.6714086G>T | GRCh38 |
| NC_000019.9:g.6714097G>T , CM000681.1:g.6714097G>T | GRCh37 |
| NC_000019.8:g.6665097G>T | NCBI36 |
| NG_009557.1:g.11566C>A , LRG_27:g.11566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.560-4C>A | ENSP00000512083.1:n.560-4C>A | |
| ENST00000245907.11:c.683-4C>A MANE Select | ENSP00000245907.4:n.683-4C>A | |
| ENST00000245907.10:c.683-4C>A | ENSP00000245907.4:n.683-4C>A | |
| ENST00000595577.1:n.187-4C>A | ||
| NM_000064.3:c.683-4C>A | NP_000055.2:n.683-4C>A | |
| NM_000064.4:c.683-4C>A MANE Select | NP_000055.2:n.683-4C>A |