Linked Data
dbSNP Id:
rs1321106421
gnomAD v2:
2-37376664-T-C
gnomAD v3:
2-37149521-T-C
gnomAD v4:
2-37149521-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.37149521T>C , CM000664.2:g.37149521T>C | GRCh38 |
| NC_000002.11:g.37376664T>C , CM000664.1:g.37376664T>C | GRCh37 |
| NC_000002.10:g.37230168T>C | NCBI36 |
| NG_030351.1:g.12527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233057.9:c.-183-498A>G MANE Select | ENSP00000233057.4:n.-183-498A>G | |
| ENST00000411537.7:n.29-498A>G | ||
| ENST00000679507.1:c.-16-1699A>G | ENSP00000506024.1:n.-16-1699A>G | |
| ENST00000679979.1:c.-183-498A>G | ENSP00000506455.1:n.-183-498A>G | |
| ENST00000680273.1:c.-183-498A>G | ENSP00000506203.1:n.-183-498A>G | |
| ENST00000681329.1:n.157-498A>G | ||
| ENST00000681463.1:c.-75-606A>G | ENSP00000505138.1:n.-75-606A>G | |
| ENST00000681507.1:c.-99-582A>G | ENSP00000505772.1:n.-99-582A>G | |
| ENST00000233057.8:c.-183-498A>G | ENSP00000233057.4:n.-183-498A>G | |
| ENST00000390013.3:c.-99-582A>G | ENSP00000374663.3:n.-99-582A>G | |
| ENST00000395127.6:c.-417-264A>G | ENSP00000378559.2:n.-417-264A>G | |
| ENST00000411537.6:c.-75-606A>G | ENSP00000393921.2:n.-75-606A>G | |
| NM_001135651.2:c.-183-498A>G | NP_001129123.1:n.-183-498A>G | |
| NM_002759.3:c.-417-264A>G | NP_002750.1:n.-417-264A>G | |
| XM_011532987.1:c.-99-582A>G | XP_011531289.1:n.-99-582A>G | |
| XM_011532987.2:c.-99-582A>G | XP_011531289.1:n.-99-582A>G | |
| XM_017004503.1:c.-183-498A>G | XP_016859992.1:n.-183-498A>G | |
| NM_001135651.3:c.-183-498A>G MANE Select | NP_001129123.1:n.-183-498A>G | |
| NM_002759.4:c.-417-264A>G | NP_002750.1:n.-417-264A>G |