Linked Data
dbSNP Id:
rs1283075954
gnomAD v2:
15-38591534-T-G
gnomAD v3:
15-38299333-T-G
gnomAD v4:
15-38299333-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299333T>G , CM000677.2:g.38299333T>G | GRCh38 |
| NC_000015.9:g.38591534T>G , CM000677.1:g.38591534T>G | GRCh37 |
| NC_000015.8:g.36378826T>G | NCBI36 |
| NG_008980.1:g.51483T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.33-40T>G MANE Select | ENSP00000299084.4:n.33-40T>G | |
| ENST00000299084.8:c.33-40T>G | ENSP00000299084.4:n.33-40T>G | |
| ENST00000561205.1:n.371-40T>G | ||
| ENST00000561317.1:c.-31-40T>G | ENSP00000453680.1:n.-31-40T>G | |
| NM_152594.2:c.33-40T>G | NP_689807.1:n.33-40T>G | |
| XM_005254202.2:c.69-40T>G | XP_005254259.1:n.69-40T>G | |
| XM_005254203.3:c.-15-22908T>G | XP_005254260.1:n.-15-22908T>G | |
| XM_011521288.1:c.-31-40T>G | XP_011519590.1:n.-31-40T>G | |
| XM_011521289.1:c.-31-40T>G | XP_011519591.1:n.-31-40T>G | |
| XM_011521290.1:c.-31-40T>G | XP_011519592.1:n.-31-40T>G | |
| XM_005254202.3:c.69-40T>G | XP_005254259.1:n.69-40T>G | |
| XM_011521289.3:c.-31-40T>G | XP_011519591.1:n.-31-40T>G | |
| NM_152594.3:c.33-40T>G MANE Select | NP_689807.1:n.33-40T>G |