Linked Data
dbSNP Id:
rs1061237
gnomAD v2:
17-48262775-A-C
gnomAD v3:
17-50185414-A-C
gnomAD v4:
17-50185414-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185414A>C , CM000679.2:g.50185414A>C | GRCh38 |
| NC_000017.10:g.48262775A>C , CM000679.1:g.48262775A>C | GRCh37 |
| NC_000017.9:g.45617774A>C | NCBI36 |
| NG_007400.1:g.21226T>G , LRG_1:g.21226T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.*88T>G MANE Select | ENSP00000225964.6:n.*88T>G | |
| ENST00000225964.9:c.*88T>G | ENSP00000225964.5:n.*88T>G | |
| NM_000088.3:c.*88T>G , LRG_1t1:c.*88T>G | NP_000079.2:n.*88T>G | |
| XM_005257058.3:c.*88T>G | XP_005257115.2:n.*88T>G | |
| XM_005257059.3:c.*88T>G | XP_005257116.2:n.*88T>G | |
| XM_011524341.1:c.*88T>G | XP_011522643.1:n.*88T>G | |
| XM_005257058.4:c.*88T>G | XP_005257115.2:n.*88T>G | |
| XM_005257059.4:c.*88T>G | XP_005257116.2:n.*88T>G | |
| NM_000088.4:c.*88T>G MANE Select | NP_000079.2:n.*88T>G |