Linked Data
dbSNP Id:
rs2011905
gnomAD v2:
15-87053846-G-T
gnomAD v3:
15-86510615-G-T
gnomAD v4:
15-86510615-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86510615G>T , CM000677.2:g.86510615G>T | GRCh38 |
| NC_000015.9:g.87053846G>T , CM000677.1:g.87053846G>T | GRCh37 |
| NC_000015.8:g.84854850G>T | NCBI36 |
| NG_033836.1:g.373605G>T | |
| NG_033836.2:g.435808G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441037.7:c.2556-12195G>T | ENSP00000413001.3:n.2556-12195G>T | |
| ENST00000614907.3:c.2556-12195G>T MANE Select | ENSP00000490608.2:n.2556-12195G>T | |
| ENST00000421325.3:c.2418-12195G>T | ENSP00000397173.3:n.2418-12195G>T | |
| ENST00000441037.6:c.2418-12195G>T | ENSP00000413001.2:n.2418-12195G>T | |
| NM_152336.2:c.2418-12195G>T | NP_689549.2:n.2418-12195G>T | |
| XM_011521226.1:c.2556-12195G>T | XP_011519528.1:n.2556-12195G>T | |
| XM_011521227.1:c.2556-12195G>T | XP_011519529.1:n.2556-12195G>T | |
| XR_931750.1:n.2597-12195G>T | ||
| NM_152336.3:c.2556-12195G>T | NP_689549.3:n.2556-12195G>T | |
| XM_011521226.3:c.2556-12195G>T | XP_011519528.1:n.2556-12195G>T | |
| XM_011521227.3:c.2556-12195G>T | XP_011519529.1:n.2556-12195G>T | |
| XM_017021918.2:c.2523-12195G>T | XP_016877407.1:n.2523-12195G>T | |
| XM_017021919.2:c.2472-12195G>T | XP_016877408.1:n.2472-12195G>T | |
| XR_931750.3:n.2745-12195G>T | ||
| NM_152336.4:c.2556-12195G>T | NP_689549.3:n.2556-12195G>T | |
| NM_001386094.1:c.2556-12195G>T MANE Select | NP_001373023.1:n.2556-12195G>T |