Linked Data
dbSNP Id:
rs751581885
ExAC:
19:6718462 G / A
gnomAD v2:
19-6718462-G-A
gnomAD v3:
19-6718451-G-A
gnomAD v4:
19-6718451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6718451G>A , CM000681.2:g.6718451G>A | GRCh38 |
| NC_000019.9:g.6718462G>A , CM000681.1:g.6718462G>A | GRCh37 |
| NC_000019.8:g.6669462G>A | NCBI36 |
| NG_009557.1:g.7201C>T , LRG_27:g.7201C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000594936.2:n.329-39C>T | ||
| ENST00000695652.1:c.145-39C>T | ENSP00000512083.1:n.145-39C>T | |
| ENST00000695693.1:c.268-39C>T | ENSP00000512104.1:n.268-39C>T | |
| ENST00000245907.11:c.268-39C>T MANE Select | ENSP00000245907.4:n.268-39C>T | |
| ENST00000245907.10:c.268-39C>T | ENSP00000245907.4:n.268-39C>T | |
| ENST00000594936.1:n.329-39C>T | ||
| ENST00000600744.1:c.145-39C>T | ENSP00000472044.1:n.145-39C>T | |
| NM_000064.3:c.268-39C>T | NP_000055.2:n.268-39C>T | |
| NM_000064.4:c.268-39C>T MANE Select | NP_000055.2:n.268-39C>T |