Linked Data
ClinVar Variation Id:
2582842
ClinVar RCV Id:
RCV003993690
dbSNP Id:
rs2071288
ExAC:
6:32149260 C / T
gnomAD v2:
6-32149260-C-T
gnomAD v3:
6-32181483-C-T
gnomAD v4:
6-32181483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181483C>T , CM000668.2:g.32181483C>T | GRCh38 |
| NC_000006.11:g.32149260C>T , CM000668.1:g.32149260C>T | GRCh37 |
| NC_000006.10:g.32257238C>T | NCBI36 |
| NG_029868.1:g.7840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.992-6G>A MANE Select | ENSP00000364217.4:n.992-6G>A | |
| ENST00000375055.6:c.*29+41G>A | ENSP00000364195.2:n.*29+41G>A | |
| ENST00000375065.6:c.179-6G>A | ENSP00000364206.6:n.179-6G>A | |
| ENST00000375067.7:c.837-6G>A | ENSP00000364208.3:n.837-6G>A | |
| ENST00000375069.7:c.1040-6G>A | ENSP00000364210.4:n.1040-6G>A | |
| ENST00000375070.7:c.662-6G>A | ENSP00000364211.4:n.662-6G>A | |
| ENST00000375076.8:c.992-6G>A | ENSP00000364217.4:n.992-6G>A | |
| ENST00000438221.6:c.*29+41G>A | ENSP00000387887.2:n.*29+41G>A | |
| ENST00000469940.5:n.153G>A | ||
| ENST00000473619.5:n.534-6G>A | ||
| ENST00000484849.5:n.1199-6G>A | ||
| ENST00000488669.5:n.615+41G>A | ||
| ENST00000620802.4:c.283-50G>A | ENSP00000484081.1:n.283-50G>A | |
| NM_001136.4:c.992-6G>A | NP_001127.1:n.992-6G>A | |
| NM_001206929.1:c.1040-6G>A | NP_001193858.1:n.1040-6G>A | |
| NM_001206932.1:c.950-6G>A | NP_001193861.1:n.950-6G>A | |
| NM_001206934.1:c.*29+41G>A | NP_001193863.1:n.*29+41G>A | |
| NM_001206936.1:c.1021+41G>A | NP_001193865.1:n.1021+41G>A | |
| NM_001206940.1:c.*29+41G>A | NP_001193869.1:n.*29+41G>A | |
| NM_001206954.1:c.931+41G>A | NP_001193883.1:n.931+41G>A | |
| NM_001206966.1:c.*29+41G>A | NP_001193895.1:n.*29+41G>A | |
| NM_172197.2:c.837-6G>A | NP_751947.1:n.837-6G>A | |
| NR_038190.1:n.1275-6G>A | ||
| XM_017010328.2:c.1072+41G>A | XP_016865817.1:n.1072+41G>A | |
| XR_001743189.2:n.1056-6G>A | ||
| XR_001743190.2:n.1008-6G>A | ||
| NM_001136.5:c.992-6G>A MANE Select | NP_001127.1:n.992-6G>A | |
| NM_001206932.2:c.950-6G>A | NP_001193861.1:n.950-6G>A | |
| NM_001206936.2:c.1021+41G>A | NP_001193865.1:n.1021+41G>A | |
| NM_001206940.2:c.*29+41G>A | NP_001193869.1:n.*29+41G>A | |
| NM_001206954.2:c.931+41G>A | NP_001193883.1:n.931+41G>A | |
| NM_001206966.2:c.*29+41G>A | NP_001193895.1:n.*29+41G>A | |
| NM_172197.3:c.837-6G>A | NP_751947.1:n.837-6G>A | |
| NR_038190.2:n.1206-6G>A | ||
| NM_001206929.2:c.1040-6G>A | NP_001193858.1:n.1040-6G>A | |
| NM_001206934.2:c.*29+41G>A | NP_001193863.1:n.*29+41G>A |