Linked Data
dbSNP Id:
rs761815948
ExAC:
19:6718445 T / A
gnomAD v2:
19-6718445-T-A
gnomAD v4:
19-6718434-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6718434T>A , CM000681.2:g.6718434T>A | GRCh38 |
| NC_000019.9:g.6718445T>A , CM000681.1:g.6718445T>A | GRCh37 |
| NC_000019.8:g.6669445T>A | NCBI36 |
| NG_009557.1:g.7218A>T , LRG_27:g.7218A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000594936.2:n.329-22A>T | ||
| ENST00000695652.1:c.145-22A>T | ENSP00000512083.1:n.145-22A>T | |
| ENST00000695693.1:c.268-22A>T | ENSP00000512104.1:n.268-22A>T | |
| ENST00000245907.11:c.268-22A>T MANE Select | ENSP00000245907.4:n.268-22A>T | |
| ENST00000245907.10:c.268-22A>T | ENSP00000245907.4:n.268-22A>T | |
| ENST00000594936.1:n.329-22A>T | ||
| ENST00000600744.1:c.145-22A>T | ENSP00000472044.1:n.145-22A>T | |
| NM_000064.3:c.268-22A>T | NP_000055.2:n.268-22A>T | |
| NM_000064.4:c.268-22A>T MANE Select | NP_000055.2:n.268-22A>T |