Linked Data
ClinVar Variation Id:
2955553
ClinVar RCV Id:
RCV003810704
dbSNP Id:
rs1595880874
gnomAD v4:
11-47411920-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47411920T>C , CM000673.2:g.47411920T>C | GRCh38 |
| NC_000011.9:g.47433471T>C , CM000673.1:g.47433471T>C | GRCh37 |
| NC_000011.8:g.47390047T>C | NCBI36 |
| NG_017073.1:g.8426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362021.9:c.302-6T>C MANE Select | ENSP00000354689.4:n.302-6T>C | |
| ENST00000354884.8:c.302-6T>C | ENSP00000346956.4:n.302-6T>C | |
| ENST00000362021.8:c.302-6T>C | ENSP00000354689.4:n.302-6T>C | |
| ENST00000524928.1:c.302-6T>C | ENSP00000437186.1:n.302-6T>C | |
| ENST00000526614.5:c.302-6T>C | ENSP00000432499.1:n.302-6T>C | |
| ENST00000527091.1:c.302-6T>C | ENSP00000435076.1:n.302-6T>C | |
| ENST00000531419.5:c.302-6T>C | ENSP00000432302.1:n.302-6T>C | |
| ENST00000531865.5:c.302-6T>C | ENSP00000434684.1:n.302-6T>C | |
| ENST00000531974.5:c.302-6T>C | ENSP00000435845.1:n.302-6T>C | |
| ENST00000533076.5:c.302-6T>C | ENSP00000434290.1:n.302-6T>C | |
| NM_001128225.2:c.302-6T>C | NP_001121697.1:n.302-6T>C | |
| NM_152264.4:c.302-6T>C | NP_689477.2:n.302-6T>C | |
| XM_006718381.2:c.347-6T>C | XP_006718444.1:n.347-6T>C | |
| XM_006718383.2:c.347-6T>C | XP_006718446.1:n.347-6T>C | |
| XM_006718384.2:c.347-6T>C | XP_006718447.1:n.347-6T>C | |
| XM_006718385.2:c.347-6T>C | XP_006718448.1:n.347-6T>C | |
| XM_011520466.1:c.347-6T>C | XP_011518768.1:n.347-6T>C | |
| XM_011520467.1:c.302-6T>C | XP_011518769.1:n.302-6T>C | |
| XM_011520468.1:c.302-6T>C | XP_011518770.1:n.302-6T>C | |
| XM_011520469.1:c.347-6T>C | XP_011518771.1:n.347-6T>C | |
| XM_011520470.1:c.302-6T>C | XP_011518772.1:n.302-6T>C | |
| XM_011520471.1:c.347-6T>C | XP_011518773.1:n.347-6T>C | |
| XM_011520472.1:c.347-6T>C | XP_011518774.1:n.347-6T>C | |
| XR_242832.1:n.712-6T>C | ||
| XR_428862.2:n.383-6T>C | ||
| XR_428863.2:n.383-6T>C | ||
| XR_930928.1:n.383-6T>C | ||
| NM_001330245.1:c.302-6T>C | NP_001317174.1:n.302-6T>C | |
| NR_134854.1:n.568-6T>C | ||
| XM_006718381.3:c.347-6T>C | XP_006718444.1:n.347-6T>C | |
| XM_006718383.3:c.347-6T>C | XP_006718446.1:n.347-6T>C | |
| XM_011520468.3:c.302-6T>C | XP_011518770.1:n.302-6T>C | |
| XM_011520470.2:c.302-6T>C | XP_011518772.1:n.302-6T>C | |
| XM_017018540.2:c.302-6T>C | XP_016874029.1:n.302-6T>C | |
| XM_017018541.2:c.302-6T>C | XP_016874030.1:n.302-6T>C | |
| XM_024448762.1:c.302-6T>C | XP_024304530.1:n.302-6T>C | |
| XR_001748027.1:n.383-6T>C | ||
| XR_001748028.1:n.383-6T>C | ||
| XR_428862.3:n.383-6T>C | ||
| XR_428863.3:n.383-6T>C | ||
| XR_930928.2:n.383-6T>C | ||
| NM_001128225.3:c.302-6T>C MANE Select | NP_001121697.2:n.302-6T>C | |
| NM_001330245.2:c.302-6T>C | NP_001317174.2:n.302-6T>C | |
| NM_152264.5:c.302-6T>C | NP_689477.3:n.302-6T>C |