Linked Data
dbSNP Id:
rs771825294
ExAC:
15:38591684 C / T
gnomAD v2:
15-38591684-C-T
gnomAD v4:
15-38299483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299483C>T , CM000677.2:g.38299483C>T | GRCh38 |
| NC_000015.9:g.38591684C>T , CM000677.1:g.38591684C>T | GRCh37 |
| NC_000015.8:g.36378976C>T | NCBI36 |
| NG_008980.1:g.51633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.143C>T MANE Select | ENSP00000299084.4:p.Pro48Leu | |
| ENST00000299084.8:c.143C>T | ENSP00000299084.4:p.Pro48Leu | |
| ENST00000561205.1:n.481C>T | ||
| ENST00000561317.1:c.80C>T | ENSP00000453680.1:p.Pro27Leu | |
| NM_152594.2:c.143C>T | NP_689807.1:p.Pro48Leu | |
| XM_005254202.2:c.179C>T | XP_005254259.1:p.Pro60Leu | |
| XM_005254203.3:c.-15-22758C>T | XP_005254260.1:n.-15-22758C>T | |
| XM_011521288.1:c.80C>T | XP_011519590.1:p.Pro27Leu | |
| XM_011521289.1:c.80C>T | XP_011519591.1:p.Pro27Leu | |
| XM_011521290.1:c.80C>T | XP_011519592.1:p.Pro27Leu | |
| XM_005254202.3:c.179C>T | XP_005254259.1:p.Pro60Leu | |
| XM_011521289.3:c.80C>T | XP_011519591.1:p.Pro27Leu | |
| NM_152594.3:c.143C>T MANE Select | NP_689807.1:p.Pro48Leu |