Linked Data
dbSNP Id:
rs201110844
ExAC:
1:67519714 T / G
gnomAD v2:
1-67519714-T-G
gnomAD v4:
1-67054031-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67054031T>G , CM000663.2:g.67054031T>G | GRCh38 |
| NC_000001.10:g.67519714T>G , CM000663.1:g.67519714T>G | GRCh37 |
| NC_000001.9:g.67292302T>G | NCBI36 |
| NG_012933.1:g.5367A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.-18A>C MANE Select | ENSP00000235345.5:n.-18A>C | |
| ENST00000235345.5:c.-18A>C | ENSP00000235345.5:n.-18A>C | |
| NM_015139.2:c.-18A>C | NP_055954.1:n.-18A>C | |
| XM_006710478.1:c.-18A>C | XP_006710541.1:n.-18A>C | |
| XM_011541070.1:c.-18A>C | XP_011539372.1:n.-18A>C | |
| XM_006710478.2:c.-18A>C | XP_006710541.1:n.-18A>C | |
| XM_011541070.2:c.-18A>C | XP_011539372.1:n.-18A>C | |
| XR_001737057.2:n.393A>C | ||
| XR_001737058.2:n.386A>C | ||
| NM_015139.3:c.-18A>C MANE Select | NP_055954.1:n.-18A>C |