Linked Data
dbSNP Id:
rs891677591
gnomAD v2:
19-45856844-C-A
gnomAD v3:
19-45353586-C-A
gnomAD v4:
19-45353586-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45353586C>A , CM000681.2:g.45353586C>A | GRCh38 |
| NC_000019.9:g.45856844C>A , CM000681.1:g.45856844C>A | GRCh37 |
| NC_000019.8:g.50548684C>A | NCBI36 |
| NG_007067.2:g.22002G>T , LRG_461:g.22002G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.1666-252G>T | ENSP00000375808.4:n.1666-252G>T | |
| ENST00000682414.1:c.1666-252G>T | ENSP00000507019.1:n.1666-252G>T | |
| ENST00000682508.1:n.1695-252G>T | ||
| ENST00000684218.1:c.*924-252G>T | ENSP00000507804.1:n.*924-252G>T | |
| ENST00000684264.1:n.1222-252G>T | ||
| ENST00000684407.1:c.1543-252G>T | ENSP00000507775.1:n.1543-252G>T | |
| ENST00000684458.1:c.*152-252G>T | ENSP00000508260.1:n.*152-252G>T | |
| ENST00000684468.1:n.1378-252G>T | ||
| ENST00000391945.10:c.1666-252G>T MANE Select | ENSP00000375809.4:n.1666-252G>T | |
| ENST00000587376.6:c.725-252G>T | ||
| ENST00000646507.1:n.1763-252G>T | ||
| ENST00000391941.6:c.1594-252G>T | ENSP00000375805.2:n.1594-252G>T | |
| ENST00000391942.6:n.837-252G>T | ||
| ENST00000391944.7:c.1432-252G>T | ENSP00000375808.3:n.1432-252G>T | |
| ENST00000391945.8:c.1666-252G>T | ENSP00000375809.3:n.1666-252G>T | |
| ENST00000587376.5:c.725-252G>T | ||
| ENST00000588652.5:n.1754-252G>T | ||
| NM_000400.3:c.1666-252G>T , LRG_461t1:c.1666-252G>T | NP_000391.1:n.1666-252G>T | |
| XM_011526611.1:c.1588-252G>T | XP_011524913.1:n.1588-252G>T | |
| XR_935763.1:n.1649-252G>T | ||
| XM_011526611.2:c.1588-252G>T | XP_011524913.1:n.1588-252G>T | |
| XM_017026467.1:c.1543-252G>T | XP_016881956.1:n.1543-252G>T | |
| XR_001753633.2:n.1713-252G>T | ||
| XR_001753634.2:n.1649-252G>T | ||
| NM_000400.4:c.1666-252G>T MANE Select | NP_000391.1:n.1666-252G>T |