Linked Data
dbSNP Id:
rs164390
gnomAD v2:
5-68463014-G-T
gnomAD v3:
5-69167187-G-T
gnomAD v4:
5-69167187-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69167187G>T , CM000667.2:g.69167187G>T | GRCh38 |
| NC_000005.9:g.68463014G>T , CM000667.1:g.68463014G>T | GRCh37 |
| NC_000005.8:g.68498770G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256442.10:c.-76G>T MANE Select | ENSP00000256442.5:n.-76G>T | |
| ENST00000256442.9:c.-76G>T | ENSP00000256442.5:n.-76G>T | |
| ENST00000506572.5:c.-76G>T | ENSP00000423387.1:n.-76G>T | |
| NM_031966.3:c.-76G>T | NP_114172.1:n.-76G>T | |
| NM_001354844.1:c.-76G>T | NP_001341773.1:n.-76G>T | |
| NM_001354845.1:c.-76G>T | NP_001341774.1:n.-76G>T | |
| NM_031966.4:c.-76G>T MANE Select | NP_114172.1:n.-76G>T | |
| NM_001354844.2:c.-76G>T | NP_001341773.1:n.-76G>T | |
| NM_001354845.2:c.-76G>T | NP_001341774.1:n.-76G>T |