Linked Data
dbSNP Id:
rs1448961946
gnomAD v2:
4-77397839-C-T
gnomAD v3:
4-76476686-C-T
gnomAD v4:
4-76476686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76476686C>T , CM000666.2:g.76476686C>T | GRCh38 |
| NC_000004.11:g.77397839C>T , CM000666.1:g.77397839C>T | GRCh37 |
| NC_000004.10:g.77616863C>T | NCBI36 |
| NG_028077.1:g.46587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296043.7:c.168+40466C>T MANE Select | ENSP00000296043.6:n.168+40466C>T | |
| ENST00000296043.6:c.168+40466C>T | ENSP00000296043.6:n.168+40466C>T | |
| ENST00000466541.1:n.75+40466C>T | ||
| ENST00000497440.5:n.109+40466C>T | ||
| NM_020859.3:c.168+40466C>T | NP_065910.3:n.168+40466C>T | |
| XM_005263162.3:c.168+40466C>T | XP_005263219.1:n.168+40466C>T | |
| XM_011532158.1:c.168+40466C>T | XP_011530460.1:n.168+40466C>T | |
| XM_011532159.1:c.168+40466C>T | XP_011530461.1:n.168+40466C>T | |
| XM_011532158.3:c.168+40466C>T | XP_011530460.1:n.168+40466C>T | |
| NM_020859.4:c.168+40466C>T MANE Select | NP_065910.3:n.168+40466C>T |