Linked Data
dbSNP Id:
rs12914656
gnomAD v2:
15-86660720-T-C
gnomAD v3:
15-86117489-T-C
gnomAD v4:
15-86117489-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86117489T>C , CM000677.2:g.86117489T>C | GRCh38 |
| NC_000015.9:g.86660720T>C , CM000677.1:g.86660720T>C | GRCh37 |
| NC_000015.8:g.84461724T>C | NCBI36 |
| NG_033836.2:g.42682T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441037.7:c.52-24515T>C | ENSP00000413001.3:n.52-24515T>C | |
| ENST00000614907.3:c.52-24515T>C MANE Select | ENSP00000490608.2:n.52-24515T>C | |
| XM_011521226.1:c.52-24515T>C | XP_011519528.1:n.52-24515T>C | |
| XM_011521227.1:c.52-24515T>C | XP_011519529.1:n.52-24515T>C | |
| XM_011521228.1:c.52-24515T>C | XP_011519530.1:n.52-24515T>C | |
| XM_011521229.1:c.52-24515T>C | XP_011519531.1:n.52-24515T>C | |
| XM_011521230.1:c.52-24515T>C | XP_011519532.1:n.52-24515T>C | |
| XR_931750.1:n.238-24515T>C | ||
| XR_931751.1:n.238-24515T>C | ||
| NM_152336.3:c.52-24515T>C | NP_689549.3:n.52-24515T>C | |
| XM_011521226.3:c.52-24515T>C | XP_011519528.1:n.52-24515T>C | |
| XM_011521227.3:c.52-24515T>C | XP_011519529.1:n.52-24515T>C | |
| XM_011521228.3:c.52-24515T>C | XP_011519530.1:n.52-24515T>C | |
| XM_011521230.3:c.52-24515T>C | XP_011519532.1:n.52-24515T>C | |
| XM_017021918.2:c.52-24515T>C | XP_016877407.1:n.52-24515T>C | |
| XM_017021919.2:c.52-24515T>C | XP_016877408.1:n.52-24515T>C | |
| XM_017021920.2:c.52-24515T>C | XP_016877409.1:n.52-24515T>C | |
| XM_017021921.2:c.52-24515T>C | XP_016877410.1:n.52-24515T>C | |
| XR_931750.3:n.386-24515T>C | ||
| XR_931751.3:n.386-24515T>C | ||
| NM_152336.4:c.52-24515T>C | NP_689549.3:n.52-24515T>C | |
| NM_001386094.1:c.52-24515T>C MANE Select | NP_001373023.1:n.52-24515T>C |