Linked Data
dbSNP Id:
rs892222511
gnomAD v2:
9-21988917-G-C
gnomAD v3:
9-21988918-G-C
gnomAD v4:
9-21988918-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21988918G>C , CM000671.2:g.21988918G>C | GRCh38 |
| NC_000009.11:g.21988917G>C , CM000671.1:g.21988917G>C | GRCh37 |
| NC_000009.10:g.21978917G>C | NCBI36 |
| NG_007485.1:g.10574C>G , LRG_11:g.10574C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.348-40515G>C | ENSP00000385916.2:n.348-40515G>C | |
| ENST00000579755.2:c.193+5221C>G MANE Plus Clinical | ENSP00000462950.1:n.193+5221C>G | |
| ENST00000361570.4:c.193+5221C>G | ENSP00000355153.4:n.193+5221C>G | |
| ENST00000404796.2:c.348-40515G>C | ENSP00000385916.2:n.348-40515G>C | |
| ENST00000494262.5:c.-4+4964C>G | ENSP00000464952.1:n.-4+4964C>G | |
| ENST00000498628.6:c.-4+5903C>G | ENSP00000467857.1:n.-4+5903C>G | |
| ENST00000530628.2:c.193+5221C>G | ENSP00000432664.2:n.193+5221C>G | |
| ENST00000579755.1:c.193+5221C>G | ENSP00000462950.1:n.193+5221C>G | |
| NM_058195.3:c.193+5221C>G , LRG_11t2:c.193+5221C>G | NP_478102.2:n.193+5221C>G | |
| XM_011517678.1:c.*1012C>G | XP_011515980.1:n.*1012C>G | |
| XM_011517679.1:c.-4+5903C>G | XP_011515981.1:n.-4+5903C>G | |
| XR_929161.1:n.340+5221C>G | ||
| XR_929162.1:n.340+5221C>G | ||
| XR_929163.1:n.289+5221C>G | ||
| NM_001363763.1:c.-4+5903C>G | NP_001350692.1:n.-4+5903C>G | |
| NM_001363763.2:c.-4+5903C>G | NP_001350692.1:n.-4+5903C>G | |
| NM_058195.4:c.193+5221C>G MANE Plus Clinical | NP_478102.2:n.193+5221C>G |