Linked Data
dbSNP Id:
rs191070948
gnomAD v2:
1-11171224-C-T
gnomAD v3:
1-11111167-C-T
gnomAD v4:
1-11111167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11111167C>T , CM000663.2:g.11111167C>T | GRCh38 |
| NC_000001.10:g.11171224C>T , CM000663.1:g.11171224C>T | GRCh37 |
| NC_000001.9:g.11093811C>T | NCBI36 |
| NG_033239.1:g.156385G>A , LRG_734:g.156385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2742-1438G>A | ENSP00000515181.1:n.*2742-1438G>A | |
| ENST00000703131.1:n.3285-1438G>A | ||
| ENST00000703139.1:c.2155-1438G>A | ||
| ENST00000703140.1:c.7154-1438G>A | ENSP00000515197.1:n.7154-1438G>A | |
| ENST00000703141.1:c.*2884-1438G>A | ENSP00000515198.1:n.*2884-1438G>A | |
| ENST00000703142.1:c.*4197-1438G>A | ENSP00000515199.1:n.*4197-1438G>A | |
| ENST00000361445.9:c.7367-1438G>A MANE Select | ENSP00000354558.4:n.7367-1438G>A | |
| ENST00000361445.8:c.7367-1438G>A | ENSP00000354558.4:n.7367-1438G>A | |
| ENST00000376838.5:c.1982-1438G>A | ENSP00000366034.1:n.1982-1438G>A | |
| ENST00000455339.1:c.335-1438G>A | ENSP00000398745.1:n.335-1438G>A | |
| ENST00000473471.5:n.379-1438G>A | ||
| ENST00000490931.1:n.649+347G>A | ||
| NM_004958.3:c.7367-1438G>A , LRG_734t1:c.7367-1438G>A | NP_004949.1:n.7367-1438G>A | |
| XM_005263438.1:c.7367-1438G>A | XP_005263495.1:n.7367-1438G>A | |
| XM_005263438.2:c.7367-1438G>A | XP_005263495.1:n.7367-1438G>A | |
| XM_017000900.1:c.6686-1438G>A | XP_016856389.1:n.6686-1438G>A | |
| XM_017000901.1:c.6119-1438G>A | XP_016856390.1:n.6119-1438G>A | |
| XM_024446187.1:c.7367-1438G>A | XP_024301955.1:n.7367-1438G>A | |
| XR_001737087.1:n.7405-1438G>A | ||
| NM_004958.4:c.7367-1438G>A MANE Select | NP_004949.1:n.7367-1438G>A | |
| NM_001386500.1:c.7367-1438G>A | NP_001373429.1:n.7367-1438G>A | |
| NM_001386501.1:c.6119-1438G>A | NP_001373430.1:n.6119-1438G>A |