Linked Data
dbSNP Id:
rs141220432
gnomAD v2:
3-140676800-C-T
gnomAD v3:
3-140957958-C-T
gnomAD v4:
3-140957958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140957958C>T , CM000665.2:g.140957958C>T | GRCh38 |
| NC_000003.11:g.140676800C>T , CM000665.1:g.140676800C>T | GRCh37 |
| NC_000003.10:g.142159490C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324194.12:c.206+1267C>T MANE Select | ENSP00000320688.6:n.206+1267C>T | |
| ENST00000648615.1:c.206+1267C>T | ENSP00000497436.1:n.206+1267C>T | |
| ENST00000324194.10:c.206+1267C>T | ENSP00000320688.6:n.206+1267C>T | |
| ENST00000393015.8:n.408+1267C>T | ||
| ENST00000446041.6:c.206+1267C>T | ENSP00000401938.2:n.206+1267C>T | |
| ENST00000453248.6:c.206+1267C>T | ENSP00000391521.2:n.206+1267C>T | |
| ENST00000502594.5:c.206+1267C>T | ENSP00000423319.1:n.206+1267C>T | |
| ENST00000507429.5:c.206+1267C>T | ENSP00000421470.1:n.206+1267C>T | |
| ENST00000512023.5:c.56+1267C>T | ENSP00000424505.1:n.56+1267C>T | |
| ENST00000512506.5:c.56+1267C>T | ENSP00000423711.1:n.56+1267C>T | |
| ENST00000513887.5:c.56+1267C>T | ENSP00000422265.1:n.56+1267C>T | |
| ENST00000515813.1:n.393+1267C>T | ||
| ENST00000631654.1:c.206+1267C>T | ENSP00000487839.1:n.206+1267C>T | |
| NM_001104647.1:c.206+1267C>T | NP_001098117.1:n.206+1267C>T | |
| NM_018155.2:c.206+1267C>T | NP_060625.2:n.206+1267C>T | |
| XM_011512951.1:c.302+1267C>T | XP_011511253.1:n.302+1267C>T | |
| XM_011512953.1:c.302+1267C>T | XP_011511255.1:n.302+1267C>T | |
| XR_924150.1:n.495+1267C>T | ||
| XR_924151.1:n.495+1267C>T | ||
| XR_924152.1:n.495+1267C>T | ||
| XR_924153.1:n.495+1267C>T | ||
| XR_924154.1:n.495+1267C>T | ||
| XR_924155.1:n.495+1267C>T | ||
| XR_924156.1:n.495+1267C>T | ||
| XR_924157.1:n.495+1267C>T | ||
| NM_001104647.3:c.206+1267C>T MANE Select | NP_001098117.1:n.206+1267C>T | |
| NM_018155.3:c.206+1267C>T | NP_060625.2:n.206+1267C>T |