Linked Data
dbSNP Id:
rs1004166687
gnomAD v2:
15-39873361-T-C
gnomAD v3:
15-39581160-T-C
gnomAD v4:
15-39581160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581160T>C , CM000677.2:g.39581160T>C | GRCh38 |
| NC_000015.9:g.39873361T>C , CM000677.1:g.39873361T>C | GRCh37 |
| NC_000015.8:g.37660653T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.-98T>C MANE Select | ENSP00000260356.5:n.-98T>C | |
| ENST00000260356.5:c.-98T>C | ENSP00000260356.5:n.-98T>C | |
| ENST00000397591.2:c.-219T>C | ENSP00000380720.2:n.-219T>C | |
| NM_003246.2:c.-98T>C | NP_003237.2:n.-98T>C | |
| NM_003246.3:c.-98T>C | NP_003237.2:n.-98T>C | |
| XM_011521970.1:c.-219T>C | XP_011520272.1:n.-219T>C | |
| XM_011521971.1:c.-98T>C | XP_011520273.1:n.-98T>C | |
| XR_931897.1:n.78T>C | ||
| XM_011521971.2:c.-98T>C | XP_011520273.1:n.-98T>C | |
| NM_003246.4:c.-98T>C MANE Select | NP_003237.2:n.-98T>C |