Linked Data
dbSNP Id:
rs73725220
gnomAD v2:
6-16700060-G-A
gnomAD v3:
6-16699829-G-A
gnomAD v4:
6-16699829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16699829G>A , CM000668.2:g.16699829G>A | GRCh38 |
| NC_000006.11:g.16700060G>A , CM000668.1:g.16700060G>A | GRCh37 |
| NC_000006.10:g.16808039G>A | NCBI36 |
| NG_011571.1:g.66662C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436367.6:c.-614-41928C>T MANE Select | ENSP00000416360.1:n.-614-41928C>T | |
| ENST00000643828.1:n.345-32277C>T | ||
| ENST00000646259.1:n.189-41928C>T | ||
| ENST00000675689.1:n.151-41928C>T | ||
| ENST00000244769.8:c.-614-41928C>T | ENSP00000244769.3:n.-614-41928C>T | |
| ENST00000436367.5:c.-614-41928C>T | ENSP00000416360.1:n.-614-41928C>T | |
| ENST00000473388.6:n.279-41928C>T | ||
| ENST00000483591.6:n.118-41928C>T | ||
| ENST00000483954.1:n.160-32277C>T | ||
| ENST00000495178.1:n.77-41928C>T | ||
| NM_000332.3:c.-614-41928C>T | NP_000323.2:n.-614-41928C>T | |
| NM_001128164.1:c.-614-41928C>T | NP_001121636.1:n.-614-41928C>T | |
| NM_001357857.1:c.-643-41928C>T | NP_001344786.1:n.-643-41928C>T | |
| NM_001357857.2:c.-643-41928C>T | NP_001344786.1:n.-643-41928C>T | |
| NM_001128164.2:c.-614-41928C>T MANE Select | NP_001121636.1:n.-614-41928C>T | |
| NM_000332.4:c.-614-41928C>T | NP_000323.2:n.-614-41928C>T |