Linked Data
dbSNP Id:
rs1127091
gnomAD v2:
1-153779412-A-G
gnomAD v3:
1-153806936-A-G
gnomAD v4:
1-153806936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153806936A>G , CM000663.2:g.153806936A>G | GRCh38 |
| NC_000001.10:g.153779412A>G , CM000663.1:g.153779412A>G | GRCh37 |
| NC_000001.9:g.152046036A>G | NCBI36 |
| NG_050988.1:g.121040T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368655.5:c.*3241T>C MANE Select | ENSP00000357644.4:n.*3241T>C | |
| ENST00000637918.1:c.135+4795T>C | ||
| ENST00000368655.4:c.*3241T>C | ENSP00000357644.4:n.*3241T>C | |
| NM_020699.2:c.*3241T>C | NP_065750.1:n.*3241T>C | |
| XM_005245364.3:c.*3241T>C | XP_005245421.1:n.*3241T>C | |
| XM_006711469.2:c.*3241T>C | XP_006711532.1:n.*3241T>C | |
| XM_011509808.1:c.*3241T>C | XP_011508110.1:n.*3241T>C | |
| NM_020699.3:c.*3241T>C | NP_065750.1:n.*3241T>C | |
| XM_017003084.2:c.*6181A>G | XP_016858573.1:n.*6181A>G | |
| XM_017003085.2:c.*6179A>G | XP_016858574.1:n.*6179A>G | |
| NM_020699.4:c.*3241T>C MANE Select | NP_065750.1:n.*3241T>C |