Linked Data
dbSNP Id:
rs17605016
gnomAD v2:
12-62250420-T-G
gnomAD v3:
12-61856639-T-G
gnomAD v4:
12-61856639-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.61856639T>G , CM000674.2:g.61856639T>G | GRCh38 |
| NC_000012.11:g.62250420T>G , CM000674.1:g.62250420T>G | GRCh37 |
| NC_000012.10:g.60536687T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416284.8:c.106+10681A>C MANE Select | ENSP00000393987.3:n.106+10681A>C | |
| ENST00000416284.7:c.106+10681A>C | ENSP00000393987.3:n.106+10681A>C | |
| ENST00000548780.1:c.109+10681A>C | ENSP00000449310.1:n.109+10681A>C | |
| ENST00000549379.5:c.106+10681A>C | ENSP00000447584.1:n.106+10681A>C | |
| ENST00000549958.5:c.127+10681A>C | ENSP00000447280.1:n.127+10681A>C | |
| ENST00000551449.1:c.106+10681A>C | ENSP00000449632.1:n.106+10681A>C | |
| ENST00000551619.5:c.106+10681A>C | ENSP00000447305.1:n.106+10681A>C | |
| ENST00000552075.5:c.109+10681A>C | ENSP00000449516.1:n.109+10681A>C | |
| NM_178539.4:c.106+10681A>C | NP_848634.1:n.106+10681A>C | |
| XM_006719370.2:c.106+10681A>C | XP_006719433.1:n.106+10681A>C | |
| XM_011538272.1:c.106+10681A>C | XP_011536574.1:n.106+10681A>C | |
| XM_011538273.1:c.106+10681A>C | XP_011536575.1:n.106+10681A>C | |
| XM_011538274.1:c.106+10681A>C | XP_011536576.1:n.106+10681A>C | |
| XM_011538275.1:c.106+10681A>C | XP_011536577.1:n.106+10681A>C | |
| XM_011538272.2:c.106+10681A>C | XP_011536574.1:n.106+10681A>C | |
| XM_024448962.1:c.253+10681A>C | XP_024304730.1:n.253+10681A>C | |
| XM_024448963.1:c.109+10681A>C | XP_024304731.1:n.109+10681A>C | |
| XM_024448964.1:c.106+10681A>C | XP_024304732.1:n.106+10681A>C | |
| XM_024448965.1:c.106+10681A>C | XP_024304733.1:n.106+10681A>C | |
| XM_024448966.1:c.106+10681A>C | XP_024304734.1:n.106+10681A>C | |
| NM_178539.5:c.106+10681A>C MANE Select | NP_848634.1:n.106+10681A>C |