Linked Data
dbSNP Id:
rs977405969
gnomAD v2:
6-80816372-T-G
gnomAD v3:
6-80106655-T-G
gnomAD v4:
6-80106655-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106655T>G , CM000668.2:g.80106655T>G | GRCh38 |
| NC_000006.11:g.80816372T>G , CM000668.1:g.80816372T>G | GRCh37 |
| NC_000006.10:g.80873091T>G | NCBI36 |
| NG_009775.1:g.5029T>G | |
| NG_009775.2:g.5029T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.8:c.-39T>G | ENSP00000318351.5:n.-39T>G | |
| ENST00000356489.9:c.-39T>G | ENSP00000348880.5:n.-39T>G | |
| ENST00000369760.8:c.-39T>G | ENSP00000358775.4:n.-39T>G | |
| NM_000056.3:c.-39T>G | NP_000047.1:n.-39T>G | |
| NM_183050.2:c.-39T>G | NP_898871.1:n.-39T>G | |
| XM_006715542.2:c.-43T>G | XP_006715605.1:n.-43T>G | |
| NM_000056.4:c.-39T>G | NP_000047.1:n.-39T>G | |
| NM_001318975.1:c.-43T>G | NP_001305904.1:n.-43T>G | |
| NM_183050.3:c.-39T>G | NP_898871.1:n.-39T>G | |
| NR_134945.1:n.46T>G |