Linked Data
dbSNP Id:
rs1297836878
gnomAD v2:
2-220290363-T-C
gnomAD v3:
2-219425641-T-C
gnomAD v4:
2-219425641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425641T>C , CM000664.2:g.219425641T>C | GRCh38 |
| NC_000002.11:g.220290363T>C , CM000664.1:g.220290363T>C | GRCh37 |
| NC_000002.10:g.219998607T>C | NCBI36 |
| NG_008043.1:g.12265T>C , LRG_380:g.12265T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.763-22T>C | ||
| ENST00000683013.1:n.677-22T>C | ||
| ENST00000373960.4:c.1289-22T>C MANE Select | ENSP00000363071.3:n.1289-22T>C | |
| ENST00000373960.3:c.1289-22T>C | ENSP00000363071.3:n.1289-22T>C | |
| ENST00000483395.1:n.122T>C | ||
| NM_001927.3:c.1289-22T>C , LRG_380t1:c.1289-22T>C | NP_001918.3:n.1289-22T>C | |
| NM_001927.4:c.1289-22T>C MANE Select | NP_001918.3:n.1289-22T>C | |
| NM_001382708.1:c.1286-22T>C | NP_001369637.1:n.1286-22T>C | |
| NM_001382709.1:c.857-22T>C | NP_001369638.1:n.857-22T>C | |
| NM_001382710.1:c.1220-22T>C | NP_001369639.1:n.1220-22T>C | |
| NM_001382711.1:c.1268-22T>C | NP_001369640.1:n.1268-22T>C | |
| NM_001382712.1:c.1289-22T>C | NP_001369641.1:n.1289-22T>C | |
| NM_001382713.1:c.1019-22T>C | NP_001369642.1:n.1019-22T>C |