Linked Data
dbSNP Id:
rs11918654
gnomAD v2:
3-5188246-T-C
gnomAD v3:
3-5146561-T-C
gnomAD v4:
3-5146561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.5146561T>C , CM000665.2:g.5146561T>C | GRCh38 |
| NC_000003.11:g.5188246T>C , CM000665.1:g.5188246T>C | GRCh37 |
| NC_000003.10:g.5163246T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256496.8:c.124-23942T>C MANE Select | ENSP00000256496.3:n.124-23942T>C | |
| ENST00000256496.7:c.124-23942T>C | ENSP00000256496.3:n.124-23942T>C | |
| ENST00000419534.2:c.124-23942T>C | ENSP00000402996.2:n.124-23942T>C | |
| ENST00000429403.5:c.*111+17977T>C | ENSP00000405196.1:n.*111+17977T>C | |
| ENST00000444332.1:n.298-23942T>C | ||
| ENST00000455168.5:c.296-23942T>C | ENSP00000400831.1:n.296-23942T>C | |
| ENST00000611208.4:c.124-23942T>C | ENSP00000479202.1:n.124-23942T>C | |
| NM_018184.2:c.124-23942T>C | NP_060654.1:n.124-23942T>C | |
| XM_005265295.3:c.124-23942T>C | XP_005265352.1:n.124-23942T>C | |
| NM_018184.3:c.124-23942T>C MANE Select | NP_060654.1:n.124-23942T>C |