Linked Data
ClinVar Variation Id:
335228
ClinVar RCV Id:
RCV000311254
dbSNP Id:
rs886055830
gnomAD v2:
2-241654621-A-G
gnomAD v3:
2-240715204-A-G
gnomAD v4:
2-240715204-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240715204A>G , CM000664.2:g.240715204A>G | GRCh38 |
| NC_000002.11:g.241654621A>G , CM000664.1:g.241654621A>G | GRCh37 |
| NC_000002.10:g.241303294A>G | NCBI36 |
| NG_029724.1:g.110004T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.*2160T>C | ENSP00000322791.8:n.*2160T>C | |
| ENST00000492812.6:n.6119T>C | ||
| ENST00000498729.9:c.*2160T>C MANE Select | ENSP00000438388.1:n.*2160T>C | |
| ENST00000649096.1:c.*2160T>C | ENSP00000497030.1:n.*2160T>C | |
| ENST00000649190.1:n.6530T>C | ||
| ENST00000320389.11:c.*2160T>C | ENSP00000322791.7:n.*2160T>C | |
| ENST00000460788.5:n.4093T>C | ||
| ENST00000498729.6:c.*2160T>C | ENSP00000438388.1:n.*2160T>C | |
| NM_001244008.1:c.*2160T>C | NP_001230937.1:n.*2160T>C | |
| NM_004321.6:c.*2160T>C | NP_004312.2:n.*2160T>C | |
| XM_005247022.1:c.*2160T>C | XP_005247079.1:n.*2160T>C | |
| XM_005247023.1:c.*2160T>C | XP_005247080.1:n.*2160T>C | |
| XM_005247024.1:c.*2160T>C | XP_005247081.1:n.*2160T>C | |
| XM_005247026.1:c.*2160T>C | XP_005247083.1:n.*2160T>C | |
| XM_005247027.1:c.*2160T>C | XP_005247084.1:n.*2160T>C | |
| XM_005247028.1:c.*2160T>C | XP_005247085.1:n.*2160T>C | |
| XM_006712605.1:c.*2160T>C | XP_006712668.1:n.*2160T>C | |
| XM_011511364.1:c.*2160T>C | XP_011509666.1:n.*2160T>C | |
| XM_011511365.1:c.*2160T>C | XP_011509667.1:n.*2160T>C | |
| XM_011511366.1:c.*2160T>C | XP_011509668.1:n.*2160T>C | |
| XM_011511367.1:c.*2160T>C | XP_011509669.1:n.*2160T>C | |
| NM_001320705.1:c.*2160T>C | NP_001307634.1:n.*2160T>C | |
| NM_001330289.1:c.*2160T>C | NP_001317218.1:n.*2160T>C | |
| NM_001330290.1:c.*2160T>C | NP_001317219.1:n.*2160T>C | |
| NM_004321.7:c.*2160T>C | NP_004312.2:n.*2160T>C | |
| NM_001320705.2:c.*2160T>C | NP_001307634.1:n.*2160T>C | |
| NM_001330289.2:c.*2160T>C | NP_001317218.1:n.*2160T>C | |
| NM_001330290.2:c.*2160T>C | NP_001317219.1:n.*2160T>C | |
| NM_001244008.2:c.*2160T>C MANE Select | NP_001230937.1:n.*2160T>C | |
| NM_001379631.1:c.*2160T>C | NP_001366560.1:n.*2160T>C | |
| NM_001379632.1:c.*2160T>C | NP_001366561.1:n.*2160T>C | |
| NM_001379633.1:c.*2160T>C | NP_001366562.1:n.*2160T>C | |
| NM_001379634.1:c.*2160T>C | NP_001366563.1:n.*2160T>C | |
| NM_001379635.1:c.*2160T>C | NP_001366564.1:n.*2160T>C | |
| NM_001379636.1:c.*2160T>C | NP_001366565.1:n.*2160T>C | |
| NM_001379637.1:c.*2160T>C | NP_001366566.1:n.*2160T>C | |
| NM_001379638.1:c.*2160T>C | NP_001366567.1:n.*2160T>C | |
| NM_001379639.1:c.*2160T>C | NP_001366568.1:n.*2160T>C | |
| NM_001379640.1:c.*2160T>C | NP_001366569.1:n.*2160T>C | |
| NM_001379641.1:c.*2160T>C | NP_001366570.1:n.*2160T>C | |
| NM_001379642.1:c.*2160T>C | NP_001366571.1:n.*2160T>C | |
| NM_001379645.1:c.*2160T>C | NP_001366574.1:n.*2160T>C | |
| NM_001379646.1:c.*2160T>C | NP_001366575.1:n.*2160T>C | |
| NM_001379648.1:c.*2160T>C | NP_001366577.1:n.*2160T>C | |
| NM_001379649.1:c.*2160T>C | NP_001366578.1:n.*2160T>C | |
| NM_001379650.1:c.*2160T>C | NP_001366579.1:n.*2160T>C | |
| NM_001379651.1:c.*2160T>C | NP_001366580.1:n.*2160T>C | |
| NM_001379653.1:c.*2160T>C | NP_001366582.1:n.*2160T>C | |
| NM_004321.8:c.*2160T>C | NP_004312.2:n.*2160T>C |