Linked Data
dbSNP Id:
rs181452995
gnomAD v2:
2-220285894-T-C
gnomAD v3:
2-219421172-T-C
gnomAD v4:
2-219421172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421172T>C , CM000664.2:g.219421172T>C | GRCh38 |
| NC_000002.11:g.220285894T>C , CM000664.1:g.220285894T>C | GRCh37 |
| NC_000002.10:g.219994138T>C | NCBI36 |
| NG_008043.1:g.7796T>C , LRG_380:g.7796T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.498-168T>C | ||
| ENST00000683013.1:n.412-168T>C | ||
| ENST00000373960.4:c.1024-168T>C MANE Select | ENSP00000363071.3:n.1024-168T>C | |
| ENST00000373960.3:c.1024-168T>C | ENSP00000363071.3:n.1024-168T>C | |
| ENST00000477226.5:n.496-168T>C | ||
| ENST00000492726.1:n.419-168T>C | ||
| NM_001927.3:c.1024-168T>C , LRG_380t1:c.1024-168T>C | NP_001918.3:n.1024-168T>C | |
| NM_001927.4:c.1024-168T>C MANE Select | NP_001918.3:n.1024-168T>C | |
| NM_001382708.1:c.1021-168T>C | NP_001369637.1:n.1021-168T>C | |
| NM_001382709.1:c.736-312T>C | NP_001369638.1:n.736-312T>C | |
| NM_001382710.1:c.1023+219T>C | NP_001369639.1:n.1023+219T>C | |
| NM_001382711.1:c.1024-189T>C | NP_001369640.1:n.1024-189T>C | |
| NM_001382712.1:c.1024-168T>C | NP_001369641.1:n.1024-168T>C | |
| NM_001382713.1:c.754-168T>C | NP_001369642.1:n.754-168T>C |