Linked Data
dbSNP Id:
rs1478604
gnomAD v2:
15-39873321-T-C
gnomAD v3:
15-39581120-T-C
gnomAD v4:
15-39581120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581120T>C , CM000677.2:g.39581120T>C | GRCh38 |
| NC_000015.9:g.39873321T>C , CM000677.1:g.39873321T>C | GRCh37 |
| NC_000015.8:g.37660613T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260356.6:c.-138T>C MANE Select | ENSP00000260356.5:n.-138T>C | |
| ENST00000260356.5:c.-138T>C | ENSP00000260356.5:n.-138T>C | |
| ENST00000397591.2:c.-259T>C | ENSP00000380720.2:n.-259T>C | |
| NM_003246.2:c.-138T>C | NP_003237.2:n.-138T>C | |
| NM_003246.3:c.-138T>C | NP_003237.2:n.-138T>C | |
| XM_011521970.1:c.-259T>C | XP_011520272.1:n.-259T>C | |
| XM_011521971.1:c.-138T>C | XP_011520273.1:n.-138T>C | |
| XR_931897.1:n.38T>C | ||
| XM_011521971.2:c.-138T>C | XP_011520273.1:n.-138T>C | |
| NM_003246.4:c.-138T>C MANE Select | NP_003237.2:n.-138T>C |