Linked Data
ClinVar Variation Id:
301748
ClinVar RCV Id:
RCV000382895
dbSNP Id:
rs886047508
gnomAD v4:
10-95606296-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95606296A>C , CM000672.2:g.95606296A>C | GRCh38 |
| NC_000010.10:g.97366053A>C , CM000672.1:g.97366053A>C | GRCh37 |
| NC_000010.9:g.97356043A>C | NCBI36 |
| NG_012258.1:g.55515T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.*466T>G MANE Select | ENSP00000360268.2:n.*466T>G | |
| ENST00000371221.3:c.*466T>G | ENSP00000360265.3:n.*466T>G | |
| ENST00000371224.6:c.*466T>G | ENSP00000360268.2:n.*466T>G | |
| NM_001017423.1:c.*466T>G | NP_001017423.1:n.*466T>G | |
| NM_002860.3:c.*466T>G | NP_002851.2:n.*466T>G | |
| XM_006717933.1:c.*466T>G | XP_006717996.1:n.*466T>G | |
| XM_011540001.1:c.*466T>G | XP_011538303.1:n.*466T>G | |
| NM_001323412.1:c.*466T>G | NP_001310341.1:n.*466T>G | |
| NM_001323413.1:c.*466T>G | NP_001310342.1:n.*466T>G | |
| NM_001323414.1:c.*466T>G | NP_001310343.1:n.*466T>G | |
| NM_001323415.1:c.*466T>G | NP_001310344.1:n.*466T>G | |
| NM_001323416.1:c.*466T>G | NP_001310345.1:n.*466T>G | |
| NM_001323417.1:c.*466T>G | NP_001310346.1:n.*466T>G | |
| NM_001323418.1:c.*466T>G | NP_001310347.1:n.*466T>G | |
| NM_001323419.1:c.*466T>G | NP_001310348.1:n.*466T>G | |
| XM_024448094.1:c.*466T>G | XP_024303862.1:n.*466T>G | |
| XM_024448095.1:c.*466T>G | XP_024303863.1:n.*466T>G | |
| XM_024448096.1:c.*466T>G | XP_024303864.1:n.*466T>G | |
| XM_024448097.1:c.*466T>G | XP_024303865.1:n.*466T>G | |
| NM_002860.4:c.*466T>G MANE Select | NP_002851.2:n.*466T>G | |
| NM_001017423.2:c.*466T>G | NP_001017423.1:n.*466T>G | |
| NM_001323412.2:c.*466T>G | NP_001310341.1:n.*466T>G | |
| NM_001323413.2:c.*466T>G | NP_001310342.1:n.*466T>G | |
| NM_001323414.2:c.*466T>G | NP_001310343.1:n.*466T>G | |
| NM_001323415.2:c.*466T>G | NP_001310344.1:n.*466T>G | |
| NM_001323416.2:c.*466T>G | NP_001310345.1:n.*466T>G | |
| NM_001323417.2:c.*466T>G | NP_001310346.1:n.*466T>G | |
| NM_001323418.2:c.*466T>G | NP_001310347.1:n.*466T>G | |
| NM_001323419.2:c.*466T>G | NP_001310348.1:n.*466T>G |