Linked Data
gnomAD v3:
6-29942545-A-C
gnomAD v4:
6-29942545-A-C
MyVariant Identifiers:
chr6:g.29910322A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942545A>C , CM000668.2:g.29942545A>C | GRCh38 |
| NC_000006.11:g.29910322A>C , CM000668.1:g.29910322A>C | GRCh37 |
| NC_000006.10:g.30018301A>C | NCBI36 |
| NG_029217.2:g.5080A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706892.1:n.268A>C | ||
| ENST00000706893.1:c.-9A>C | ENSP00000516609.1:n.-9A>C | |
| ENST00000706894.1:c.-9A>C | ENSP00000516610.1:n.-9A>C | |
| ENST00000706895.1:n.268A>C | ||
| ENST00000706896.1:n.268A>C | ||
| ENST00000706897.1:n.268A>C | ||
| ENST00000706898.1:c.-9A>C | ENSP00000516611.1:n.-9A>C | |
| ENST00000706899.1:n.268A>C | ||
| ENST00000706901.1:c.-9A>C | ENSP00000516612.1:n.-9A>C | |
| ENST00000706902.1:c.-9A>C | ENSP00000516613.1:n.-9A>C | |
| ENST00000706903.1:c.-9A>C | ENSP00000516614.1:n.-9A>C | |
| ENST00000706904.1:c.-9A>C | ENSP00000516615.1:n.-9A>C | |
| ENST00000706905.1:c.-9A>C | ENSP00000516616.1:n.-9A>C | |
| ENST00000376809.10:c.-9A>C MANE Select | ENSP00000366005.5:n.-9A>C | |
| ENST00000376806.9:c.-9A>C | ENSP00000366002.5:n.-9A>C | |
| ENST00000376809.9:c.-9A>C | ENSP00000366005.5:n.-9A>C | |
| ENST00000396634.5:c.-9A>C | ENSP00000379873.1:n.-9A>C | |
| ENST00000429656.1:n.523T>G | ||
| NM_002116.7:c.-9A>C | NP_002107.3:n.-9A>C | |
| NM_002116.8:c.-9A>C MANE Select | NP_002107.3:n.-9A>C |