Linked Data
dbSNP Id:
rs796742140
gnomAD v2:
6-29910245-C-T
gnomAD v3:
6-29942468-C-T
gnomAD v4:
6-29942468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942468C>T , CM000668.2:g.29942468C>T | GRCh38 |
| NC_000006.11:g.29910245C>T , CM000668.1:g.29910245C>T | GRCh37 |
| NC_000006.10:g.30018224C>T | NCBI36 |
| NG_029217.2:g.5003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706892.1:n.191C>T | ||
| ENST00000706893.1:c.-86C>T | ENSP00000516609.1:n.-86C>T | |
| ENST00000706894.1:c.-86C>T | ENSP00000516610.1:n.-86C>T | |
| ENST00000706895.1:n.191C>T | ||
| ENST00000706896.1:n.191C>T | ||
| ENST00000706897.1:n.191C>T | ||
| ENST00000706898.1:c.-86C>T | ENSP00000516611.1:n.-86C>T | |
| ENST00000706899.1:n.191C>T | ||
| ENST00000706901.1:c.-86C>T | ENSP00000516612.1:n.-86C>T | |
| ENST00000706902.1:c.-86C>T | ENSP00000516613.1:n.-86C>T | |
| ENST00000706903.1:c.-86C>T | ENSP00000516614.1:n.-86C>T | |
| ENST00000706904.1:c.-86C>T | ENSP00000516615.1:n.-86C>T | |
| ENST00000706905.1:c.-86C>T | ENSP00000516616.1:n.-86C>T | |
| ENST00000376806.9:c.-86C>T | ENSP00000366002.5:n.-86C>T | |
| ENST00000396634.5:c.-86C>T | ENSP00000379873.1:n.-86C>T | |
| ENST00000429656.1:n.600G>A |