Linked Data
dbSNP Id:
rs1405921771
gnomAD v2:
20-8718081-A-T
gnomAD v3:
20-8737434-A-T
gnomAD v4:
20-8737434-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8737434A>T , CM000682.2:g.8737434A>T | GRCh38 |
| NC_000020.10:g.8718081A>T , CM000682.1:g.8718081A>T | GRCh37 |
| NC_000020.9:g.8666081A>T | NCBI36 |
| NG_028168.1:g.609786A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.2208+242A>T MANE Select | ENSP00000338185.6:n.2208+242A>T | |
| ENST00000635830.1:n.2279+242A>T | ||
| ENST00000636825.1:n.2072+242A>T | ||
| ENST00000637919.1:c.1905+242A>T | ENSP00000490862.1:n.1905+242A>T | |
| ENST00000338037.10:c.2208+242A>T | ENSP00000338185.6:n.2208+242A>T | |
| ENST00000378637.6:c.2208+242A>T | ENSP00000367904.2:n.2208+242A>T | |
| ENST00000378641.7:c.2208+242A>T | ENSP00000367908.3:n.2208+242A>T | |
| ENST00000439627.2:c.165+242A>T | ENSP00000391162.1:n.165+242A>T | |
| ENST00000487210.5:c.1430+242A>T | ||
| ENST00000494924.2:n.1360+242A>T | ||
| ENST00000612075.4:c.1968+242A>T | ENSP00000479997.1:n.1968+242A>T | |
| ENST00000617005.4:c.1968+242A>T | ENSP00000477664.1:n.1968+242A>T | |
| ENST00000625874.2:c.1905+242A>T | ENSP00000486301.1:n.1905+242A>T | |
| ENST00000626966.2:c.1905+242A>T | ENSP00000487075.1:n.1905+242A>T | |
| NM_015192.3:c.2208+242A>T | NP_056007.1:n.2208+242A>T | |
| NM_182734.2:c.2208+242A>T | NP_877398.1:n.2208+242A>T | |
| XM_011529199.1:c.2208+242A>T | XP_011527501.1:n.2208+242A>T | |
| XM_011529200.1:c.1992+242A>T | XP_011527502.1:n.1992+242A>T | |
| XM_011529201.1:c.1905+242A>T | XP_011527503.1:n.1905+242A>T | |
| XM_011529203.1:c.435+242A>T | XP_011527505.1:n.435+242A>T | |
| NM_015192.4:c.2208+242A>T MANE Select | NP_056007.1:n.2208+242A>T | |
| NM_182734.3:c.2208+242A>T | NP_877398.1:n.2208+242A>T |