Linked Data
dbSNP Id:
rs1458474798
gnomAD v2:
3-183678308-T-C
gnomAD v3:
3-183960520-T-C
gnomAD v4:
3-183960520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183960520T>C , CM000665.2:g.183960520T>C | GRCh38 |
| NC_000003.11:g.183678308T>C , CM000665.1:g.183678308T>C | GRCh37 |
| NC_000003.10:g.185161002T>C | NCBI36 |
| NG_047115.1:g.62491A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334444.11:c.2380-685A>G MANE Select | ENSP00000333926.6:n.2380-685A>G | |
| ENST00000265586.10:c.2380-685A>G | ENSP00000265586.6:n.2380-685A>G | |
| ENST00000334444.10:c.2380-685A>G | ENSP00000333926.6:n.2380-685A>G | |
| ENST00000437205.5:c.*1073-685A>G | ENSP00000403510.1:n.*1073-685A>G | |
| NM_005688.2:c.2380-685A>G | NP_005679.2:n.2380-685A>G | |
| XM_005247058.3:c.2380-685A>G | XP_005247115.1:n.2380-685A>G | |
| XM_005247059.3:c.2380-685A>G | XP_005247116.1:n.2380-685A>G | |
| XM_011512314.1:c.2380-685A>G | XP_011510616.1:n.2380-685A>G | |
| XM_011512315.1:c.2380-685A>G | XP_011510617.1:n.2380-685A>G | |
| XM_011512316.1:c.964-685A>G | XP_011510618.1:n.964-685A>G | |
| NM_001320032.1:c.964-685A>G | NP_001306961.1:n.964-685A>G | |
| NM_005688.3:c.2380-685A>G | NP_005679.2:n.2380-685A>G | |
| XM_005247058.5:c.2380-685A>G | XP_005247115.1:n.2380-685A>G | |
| XM_005247059.5:c.2380-685A>G | XP_005247116.1:n.2380-685A>G | |
| XM_011512314.2:c.2380-685A>G | XP_011510616.1:n.2380-685A>G | |
| XM_017005492.2:c.1846-685A>G | XP_016860981.1:n.1846-685A>G | |
| XM_024453286.1:c.1846-685A>G | XP_024309054.1:n.1846-685A>G | |
| NM_005688.4:c.2380-685A>G MANE Select | NP_005679.2:n.2380-685A>G | |
| NM_001320032.2:c.964-685A>G | NP_001306961.1:n.964-685A>G |