Linked Data
dbSNP Id:
rs764725837
gnomAD v2:
10-72517786-C-A
gnomAD v3:
10-70758030-C-A
gnomAD v4:
10-70758030-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758030C>A , CM000672.2:g.70758030C>A | GRCh38 |
| NC_000010.10:g.72517786C>A , CM000672.1:g.72517786C>A | GRCh37 |
| NC_000010.9:g.72187792C>A | NCBI36 |
| NG_042147.1:g.90228C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3006C>A MANE Select | ENSP00000362303.1:p.Leu1002= | |
| ENST00000373207.1:c.3006C>A | ENSP00000362303.1:p.Leu1002= | |
| ENST00000373208.5:c.3015C>A | ENSP00000362304.1:p.Leu1005= | |
| NM_080722.3:c.3006C>A | NP_542453.2:p.Leu1002= | |
| NM_139155.2:c.3015C>A | NP_631894.2:p.Leu1005= | |
| XM_011539300.1:c.2505C>A | XP_011537602.1:p.Leu835= | |
| XM_011539301.1:c.2079C>A | XP_011537603.1:p.Leu693= | |
| XM_011539302.1:c.2079C>A | XP_011537604.1:p.Leu693= | |
| XM_011539308.1:c.*85C>A | XP_011537610.1:n.*85C>A | |
| XM_011539309.1:c.1575C>A | XP_011537611.1:p.Leu525= | |
| NM_080722.4:c.3006C>A MANE Select | NP_542453.2:p.Leu1002= | |
| NM_139155.3:c.3015C>A | NP_631894.2:p.Leu1005= | |
| XM_011539300.2:c.2505C>A | XP_011537602.1:p.Leu835= | |
| XM_011539301.2:c.2079C>A | XP_011537603.1:p.Leu693= | |
| XM_011539302.2:c.2079C>A | XP_011537604.1:p.Leu693= | |
| XM_011539308.2:c.*85C>A | XP_011537610.1:n.*85C>A |