Linked Data
dbSNP Id:
rs1378626783
gnomAD v2:
9-137713956-C-T
gnomAD v4:
9-134822110-C-T
COSMIC:
COSM4495556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134822110C>T , CM000671.2:g.134822110C>T | GRCh38 |
| NC_000009.11:g.137713956C>T , CM000671.1:g.137713956C>T | GRCh37 |
| NC_000009.10:g.136853777C>T | NCBI36 |
| NG_008030.1:g.185305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4568C>T | ENSP00000360885.4:p.Pro1523Leu | |
| ENST00000371817.8:c.4568C>T MANE Select | ENSP00000360882.3:p.Pro1523Leu | |
| ENST00000371817.7:c.4568C>T | ENSP00000360882.3:p.Pro1523Leu | |
| ENST00000618395.4:c.4568C>T | ENSP00000481360.1:p.Pro1523Leu | |
| NM_000093.4:c.4568C>T | NP_000084.3:p.Pro1523Leu | |
| NM_001278074.1:c.4568C>T | NP_001265003.1:p.Pro1523Leu | |
| NR_103451.2:n.71-1901G>A | ||
| XR_929712.1:n.4970C>T | ||
| XR_929713.1:n.4970C>T | ||
| XM_017014266.2:c.4568C>T | XP_016869755.1:p.Pro1523Leu | |
| XR_001746183.1:n.4966C>T | ||
| NM_000093.5:c.4568C>T MANE Select | NP_000084.3:p.Pro1523Leu |