Linked Data
ClinVar Variation Id:
387035
dbSNP Id:
rs375628411
ExAC:
9:21968222 G / C
gnomAD v2:
9-21968222-G-C
gnomAD v3:
9-21968223-G-C
gnomAD v4:
9-21968223-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21968223G>C , CM000671.2:g.21968223G>C | GRCh38 |
| NC_000009.11:g.21968222G>C , CM000671.1:g.21968222G>C | GRCh37 |
| NC_000009.10:g.21958222G>C | NCBI36 |
| NG_007485.1:g.31269C>G , LRG_11:g.31269C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304494.10:c.*6C>G MANE Select | ENSP00000307101.5:n.*6C>G | |
| ENST00000404796.3:c.348-61210G>C | ENSP00000385916.2:n.348-61210G>C | |
| ENST00000579755.2:c.*121C>G MANE Plus Clinical | ENSP00000462950.1:n.*121C>G | |
| ENST00000304494.9:c.*6C>G | ENSP00000307101.5:n.*6C>G | |
| ENST00000361570.4:c.*6C>G | ENSP00000355153.4:n.*6C>G | |
| ENST00000380151.3:c.751C>G | ENSP00000369496.3:n.751C>G | |
| ENST00000404796.2:c.348-61210G>C | ENSP00000385916.2:n.348-61210G>C | |
| ENST00000494262.5:c.*6C>G | ENSP00000464952.1:n.*6C>G | |
| ENST00000498124.1:c.*170C>G | ENSP00000418915.1:n.*170C>G | |
| ENST00000498628.6:c.*6C>G | ENSP00000467857.1:n.*6C>G | |
| ENST00000530628.2:c.*47C>G | ENSP00000432664.2:n.*47C>G | |
| ENST00000578845.2:c.*6C>G | ENSP00000467390.1:n.*6C>G | |
| ENST00000579122.1:c.403C>G | ENSP00000464202.1:p.Pro135Ala | |
| ENST00000579755.1:c.*121C>G | ENSP00000462950.1:n.*121C>G | |
| NM_000077.4:c.*6C>G , LRG_11t1:c.*6C>G | NP_000068.1:n.*6C>G | |
| NM_001195132.1:c.*170C>G | NP_001182061.1:n.*170C>G | |
| NM_058195.3:c.*121C>G , LRG_11t2:c.*121C>G | NP_478102.2:n.*121C>G | |
| NM_058197.4:c.751C>G | NP_478104.2:n.751C>G | |
| XM_005251343.1:c.*6C>G | XP_005251400.1:n.*6C>G | |
| XM_011517679.1:c.*6C>G | XP_011515981.1:n.*6C>G | |
| NM_001363763.1:c.*6C>G | NP_001350692.1:n.*6C>G | |
| NM_001363763.2:c.*6C>G | NP_001350692.1:n.*6C>G | |
| NM_000077.5:c.*6C>G MANE Select | NP_000068.1:n.*6C>G | |
| NM_001195132.2:c.*170C>G | NP_001182061.1:n.*170C>G | |
| NM_058195.4:c.*121C>G MANE Plus Clinical | NP_478102.2:n.*121C>G | |
| NM_058197.5:c.*400C>G | NP_478104.2:n.*400C>G |