Linked Data
dbSNP Id:
rs1170277298
gnomAD v2:
3-98304295-T-G
gnomAD v3:
3-98585451-T-G
gnomAD v4:
3-98585451-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585451T>G , CM000665.2:g.98585451T>G | GRCh38 |
| NC_000003.11:g.98304295T>G , CM000665.1:g.98304295T>G | GRCh37 |
| NC_000003.10:g.99786985T>G | NCBI36 |
| NG_015994.1:g.13161A>C | |
| NG_015994.2:g.13161A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512905.6:c.48A>C | ||
| ENST00000647941.2:c.1162A>C MANE Select | ENSP00000497326.1:p.Arg388= | |
| ENST00000264193.2:c.1162A>C | ENSP00000264193.2:p.Arg388= | |
| ENST00000510489.1:n.412A>C | ||
| ENST00000512905.5:c.48A>C | ||
| NM_000097.5:c.1162A>C | NP_000088.3:p.Arg388= | |
| XM_005247125.3:c.1162A>C | XP_005247182.1:p.Arg388= | |
| NM_000097.7:c.1162A>C MANE Select | NP_000088.3:p.Arg388= | |
| XM_005247125.4:c.1162A>C | XP_005247182.1:p.Arg388= | |
| XR_001740025.2:n.1333A>C | ||
| XR_001740026.1:n.1897A>C | ||
| XR_001740027.1:n.1437A>C | ||
| XR_001740028.1:n.1403A>C |