Linked Data
dbSNP Id:
rs1567488225
gnomAD v2:
16-56368620-C-T
gnomAD v3:
16-56334708-C-T
gnomAD v4:
16-56334708-C-T
MyVariant Identifiers:
chr16:g.56368620_56368622delinsTCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334708C>T , CM000678.2:g.56334708C>T | GRCh38 |
| NC_000016.9:g.56368620C>T , CM000678.1:g.56368620C>T | GRCh37 |
| NC_000016.8:g.54926121C>T | NCBI36 |
| NG_042800.1:g.148370C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262494.13:c.465-21C>T | ENSP00000262494.7:n.465-21C>T | |
| ENST00000262493.12:c.465-21C>T MANE Select | ENSP00000262493.6:n.465-21C>T | |
| ENST00000262494.12:c.465-21C>T | ENSP00000262494.7:n.465-21C>T | |
| ENST00000562316.6:c.132-21C>T | ENSP00000457238.2:n.132-21C>T | |
| ENST00000638185.1:n.680-21C>T | ||
| ENST00000638210.1:n.765-21C>T | ||
| ENST00000638705.1:c.465-21C>T | ENSP00000491223.1:n.465-21C>T | |
| ENST00000638836.1:n.375-21C>T | ||
| ENST00000639055.1:n.1186-21C>T | ||
| ENST00000639251.1:n.366-21C>T | ||
| ENST00000639268.1:c.229-2023C>T | ||
| ENST00000639770.1:c.503-21C>T | ENSP00000491999.1:n.503-21C>T | |
| ENST00000640390.1:n.395-21C>T | ||
| ENST00000640893.1:c.304-21C>T | ENSP00000492677.1:n.304-21C>T | |
| ENST00000262493.10:c.465-21C>T | ENSP00000262493.6:n.465-21C>T | |
| ENST00000262494.11:c.465-21C>T | ENSP00000262494.7:n.465-21C>T | |
| ENST00000562316.5:c.204-21C>T | ENSP00000457238.1:n.204-21C>T | |
| ENST00000563440.1:c.204-21C>T | ENSP00000455774.1:n.204-21C>T | |
| ENST00000565363.5:c.339-21C>T | ENSP00000454728.1:n.339-21C>T | |
| NM_020988.2:c.465-21C>T | NP_066268.1:n.465-21C>T | |
| NM_138736.2:c.465-21C>T | NP_620073.2:n.465-21C>T | |
| XM_011523003.1:c.339-21C>T | XP_011521305.1:n.339-21C>T | |
| XM_011523003.3:c.339-21C>T | XP_011521305.1:n.339-21C>T | |
| NM_020988.3:c.465-21C>T MANE Select | NP_066268.1:n.465-21C>T | |
| NM_138736.3:c.465-21C>T | NP_620073.2:n.465-21C>T |