Linked Data
dbSNP Id:
rs1244134030
gnomAD v3:
8-143972511-A-G
gnomAD v4:
8-143972511-A-G
MyVariant Identifiers:
chr8:g.143972511A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143972511A>G , CM000670.2:g.143972511A>G | GRCh38 |
| NC_000008.10:g.145046679A>G , CM000670.1:g.145046679A>G | GRCh37 |
| NC_000008.9:g.145118667A>G | NCBI36 |
| NG_012492.1:g.9235T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.193+2666T>C | ENSP00000437303.2:n.193+2666T>C | |
| ENST00000527303.2:c.193+2666T>C | ENSP00000433982.2:n.193+2666T>C | |
| ENST00000356346.7:c.70+892T>C MANE Plus Clinical | ENSP00000348702.3:n.70+892T>C | |
| ENST00000436759.6:c.193+2666T>C | ENSP00000388180.2:n.193+2666T>C | |
| ENST00000527096.5:c.193+2666T>C | ENSP00000434583.1:n.193+2666T>C | |
| ENST00000528025.5:c.193+2666T>C | ENSP00000437303.1:n.193+2666T>C | |
| ENST00000532346.1:n.43+2666T>C | ||
| NM_000445.4:c.193+2666T>C | NP_000436.2:n.193+2666T>C | |
| NM_201378.3:c.70+892T>C | NP_958780.1:n.70+892T>C | |
| XM_005250981.2:c.70+892T>C | XP_005251038.1:n.70+892T>C | |
| XM_006716588.2:c.193+2666T>C | XP_006716651.1:n.193+2666T>C | |
| XM_005250981.3:c.70+892T>C | XP_005251038.1:n.70+892T>C | |
| XM_006716588.3:c.193+2666T>C | XP_006716651.1:n.193+2666T>C | |
| NM_000445.5:c.193+2666T>C | NP_000436.2:n.193+2666T>C | |
| NM_201378.4:c.70+892T>C MANE Plus Clinical | NP_958780.1:n.70+892T>C |