Linked Data
ClinVar Variation Id:
1222897
ClinVar RCV Id:
RCV001599075
dbSNP Id:
rs1126579
gnomAD v2:
2-219000734-T-C
gnomAD v3:
2-218136011-T-C
gnomAD v4:
2-218136011-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218136011T>C , CM000664.2:g.218136011T>C | GRCh38 |
| NC_000002.11:g.219000734T>C , CM000664.1:g.219000734T>C | GRCh37 |
| NC_000002.10:g.218708979T>C | NCBI36 |
| NG_052975.1:g.15722T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318507.7:c.*127T>C MANE Select | ENSP00000319635.2:n.*127T>C | |
| ENST00000318507.6:c.*127T>C | ENSP00000319635.2:n.*127T>C | |
| NM_001168298.1:c.*127T>C | NP_001161770.1:n.*127T>C | |
| NM_001557.3:c.*127T>C | NP_001548.1:n.*127T>C | |
| XM_005246530.2:c.*127T>C | XP_005246587.1:n.*127T>C | |
| XM_005246530.3:c.*127T>C | XP_005246587.1:n.*127T>C | |
| XM_017003990.1:c.*127T>C | XP_016859479.1:n.*127T>C | |
| XM_017003991.1:c.*127T>C | XP_016859480.1:n.*127T>C | |
| XM_017003992.1:c.*127T>C | XP_016859481.1:n.*127T>C | |
| NM_001557.4:c.*127T>C MANE Select | NP_001548.1:n.*127T>C | |
| NM_001168298.2:c.*127T>C | NP_001161770.1:n.*127T>C |