Linked Data
dbSNP Id:
rs2855116
gnomAD v2:
6-160106125-A-C
gnomAD v3:
6-159685093-A-C
gnomAD v4:
6-159685093-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159685093A>C , CM000668.2:g.159685093A>C | GRCh38 |
| NC_000006.11:g.160106125A>C , CM000668.1:g.160106125A>C | GRCh37 |
| NC_000006.10:g.160026115A>C | NCBI36 |
| NG_008729.1:g.13229T>G | |
| NG_008729.3:g.82437T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538183.7:c.344-60T>G MANE Select | ENSP00000446252.1:n.344-60T>G | |
| ENST00000337404.8:c.227-60T>G | ENSP00000337127.4:n.227-60T>G | |
| ENST00000367054.6:c.227-60T>G | ENSP00000356021.2:n.227-60T>G | |
| ENST00000367055.8:c.344-60T>G | ENSP00000356022.4:n.344-60T>G | |
| ENST00000401980.3:c.89-60T>G | ENSP00000384196.3:n.89-60T>G | |
| ENST00000444946.6:c.344-2455T>G | ENSP00000404804.2:n.344-2455T>G | |
| ENST00000535459.5:n.224-60T>G | ||
| ENST00000535561.5:c.413-60T>G | ENSP00000445015.1:n.413-60T>G | |
| ENST00000537657.5:c.206-60T>G | ENSP00000439191.1:n.206-60T>G | |
| ENST00000538183.6:c.344-60T>G | ENSP00000446252.1:n.344-60T>G | |
| ENST00000540491.1:n.246-60T>G | ||
| ENST00000541573.5:n.237-60T>G | ||
| ENST00000545162.5:c.413-60T>G | ENSP00000441362.1:n.413-60T>G | |
| ENST00000546087.5:c.206-60T>G | ENSP00000442920.1:n.206-60T>G | |
| ENST00000546260.5:c.*48-60T>G | ENSP00000440131.1:n.*48-60T>G | |
| NM_000636.2:c.344-60T>G | NP_000627.2:n.344-60T>G | |
| NM_001024465.1:c.344-60T>G | NP_001019636.1:n.344-60T>G | |
| NM_001024466.1:c.227-60T>G | NP_001019637.1:n.227-60T>G | |
| NM_000636.3:c.344-60T>G | NP_000627.2:n.344-60T>G | |
| NM_001024465.2:c.344-60T>G | NP_001019636.1:n.344-60T>G | |
| NM_001024466.2:c.227-60T>G | NP_001019637.1:n.227-60T>G | |
| NM_001322814.1:c.227-60T>G | NP_001309743.1:n.227-60T>G | |
| NM_001322815.1:c.344-2455T>G | NP_001309744.1:n.344-2455T>G | |
| NM_001322817.1:c.206-60T>G | NP_001309746.1:n.206-60T>G | |
| NM_001322819.1:c.206-60T>G | NP_001309748.1:n.206-60T>G | |
| NM_001322820.1:c.206-60T>G | NP_001309749.1:n.206-60T>G | |
| NM_000636.4:c.344-60T>G MANE Select | NP_000627.2:n.344-60T>G | |
| NM_001024465.3:c.344-60T>G | NP_001019636.1:n.344-60T>G | |
| NM_001024466.3:c.227-60T>G | NP_001019637.1:n.227-60T>G | |
| NM_001322814.2:c.227-60T>G | NP_001309743.1:n.227-60T>G | |
| NM_001322815.2:c.344-2455T>G | NP_001309744.1:n.344-2455T>G | |
| NM_001322817.2:c.206-60T>G | NP_001309746.1:n.206-60T>G | |
| NM_001322819.2:c.206-60T>G | NP_001309748.1:n.206-60T>G | |
| NM_001322820.2:c.206-60T>G | NP_001309749.1:n.206-60T>G |