Linked Data
dbSNP Id:
rs3816804
gnomAD v2:
12-56680745-C-T
gnomAD v3:
12-56286961-C-T
gnomAD v4:
12-56286961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56286961C>T , CM000674.2:g.56286961C>T | GRCh38 |
| NC_000012.11:g.56680745C>T , CM000674.1:g.56680745C>T | GRCh37 |
| NC_000012.10:g.54967012C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351328.8:c.43-316G>A MANE Select | ENSP00000342056.3:n.43-316G>A | |
| ENST00000351328.7:c.43-316G>A | ENSP00000342056.3:n.43-316G>A | |
| ENST00000542324.6:c.4-316G>A | ENSP00000440543.2:n.4-316G>A | |
| ENST00000546930.5:c.43-316G>A | ENSP00000450403.1:n.43-316G>A | |
| ENST00000547283.5:n.233-316G>A | ||
| ENST00000547298.5:c.-156-316G>A | ENSP00000448409.1:n.-156-316G>A | |
| ENST00000547423.5:c.205-316G>A | ENSP00000446506.1:n.205-316G>A | |
| ENST00000548041.5:c.43-316G>A | ENSP00000447986.1:n.43-316G>A | |
| ENST00000548567.5:c.-156-316G>A | ENSP00000446779.1:n.-156-316G>A | |
| ENST00000548849.5:c.43-316G>A | ENSP00000449491.1:n.43-316G>A | |
| ENST00000549143.5:c.43-316G>A | ENSP00000449571.1:n.43-316G>A | |
| ENST00000549221.5:c.43-3970G>A | ENSP00000448667.1:n.43-3970G>A | |
| ENST00000549318.5:c.631-316G>A | ENSP00000446743.1:n.631-316G>A | |
| ENST00000550044.1:n.208-341G>A | ||
| ENST00000550159.5:c.-229-341G>A | ENSP00000447346.1:n.-229-341G>A | |
| ENST00000550655.5:c.43-316G>A | ENSP00000448172.1:n.43-316G>A | |
| ENST00000550700.1:n.178-341G>A | ||
| ENST00000550734.5:c.-131-341G>A | ENSP00000449025.1:n.-131-341G>A | |
| ENST00000550996.1:n.233-316G>A | ||
| ENST00000551137.5:c.-156-316G>A | ENSP00000449753.1:n.-156-316G>A | |
| ENST00000551155.1:n.129-341G>A | ||
| ENST00000551253.5:c.-156-316G>A | ENSP00000450101.1:n.-156-316G>A | |
| ENST00000551430.6:c.-156-316G>A | ENSP00000448166.2:n.-156-316G>A | |
| ENST00000551441.5:n.258-316G>A | ||
| ENST00000551473.5:c.-156-316G>A | ENSP00000449427.1:n.-156-316G>A | |
| ENST00000551936.5:c.-131-341G>A | ENSP00000450312.1:n.-131-341G>A | |
| ENST00000551968.5:c.43-316G>A | ENSP00000447948.1:n.43-316G>A | |
| ENST00000552222.5:c.43-316G>A | ENSP00000447582.1:n.43-316G>A | |
| ENST00000552688.5:c.43-316G>A | ENSP00000447442.1:n.43-316G>A | |
| NM_004077.2:c.43-316G>A | NP_004068.2:n.43-316G>A | |
| NM_004077.3:c.43-316G>A MANE Select | NP_004068.2:n.43-316G>A |