Linked Data
dbSNP Id:
rs1244150434
gnomAD v2:
20-8717940-A-G
gnomAD v3:
20-8737293-A-G
gnomAD v4:
20-8737293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8737293A>G , CM000682.2:g.8737293A>G | GRCh38 |
| NC_000020.10:g.8717940A>G , CM000682.1:g.8717940A>G | GRCh37 |
| NC_000020.9:g.8665940A>G | NCBI36 |
| NG_028168.1:g.609645A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.2208+101A>G MANE Select | ENSP00000338185.6:n.2208+101A>G | |
| ENST00000635830.1:n.2279+101A>G | ||
| ENST00000636825.1:n.2072+101A>G | ||
| ENST00000637919.1:c.1905+101A>G | ENSP00000490862.1:n.1905+101A>G | |
| ENST00000338037.10:c.2208+101A>G | ENSP00000338185.6:n.2208+101A>G | |
| ENST00000378637.6:c.2208+101A>G | ENSP00000367904.2:n.2208+101A>G | |
| ENST00000378641.7:c.2208+101A>G | ENSP00000367908.3:n.2208+101A>G | |
| ENST00000439627.2:c.165+101A>G | ENSP00000391162.1:n.165+101A>G | |
| ENST00000487210.5:c.1430+101A>G | ||
| ENST00000494924.2:n.1360+101A>G | ||
| ENST00000612075.4:c.1968+101A>G | ENSP00000479997.1:n.1968+101A>G | |
| ENST00000617005.4:c.1968+101A>G | ENSP00000477664.1:n.1968+101A>G | |
| ENST00000625874.2:c.1905+101A>G | ENSP00000486301.1:n.1905+101A>G | |
| ENST00000626966.2:c.1905+101A>G | ENSP00000487075.1:n.1905+101A>G | |
| NM_015192.3:c.2208+101A>G | NP_056007.1:n.2208+101A>G | |
| NM_182734.2:c.2208+101A>G | NP_877398.1:n.2208+101A>G | |
| XM_011529199.1:c.2208+101A>G | XP_011527501.1:n.2208+101A>G | |
| XM_011529200.1:c.1992+101A>G | XP_011527502.1:n.1992+101A>G | |
| XM_011529201.1:c.1905+101A>G | XP_011527503.1:n.1905+101A>G | |
| XM_011529203.1:c.435+101A>G | XP_011527505.1:n.435+101A>G | |
| NM_015192.4:c.2208+101A>G MANE Select | NP_056007.1:n.2208+101A>G | |
| NM_182734.3:c.2208+101A>G | NP_877398.1:n.2208+101A>G |