Linked Data
dbSNP Id:
rs117780815
gnomAD v2:
6-124326227-A-T
gnomAD v3:
6-124005082-A-T
gnomAD v4:
6-124005082-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.124005082A>T , CM000668.2:g.124005082A>T | GRCh38 |
| NC_000006.11:g.124326227A>T , CM000668.1:g.124326227A>T | GRCh37 |
| NC_000006.10:g.124367926A>T | NCBI36 |
| NG_021365.1:g.206159A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368417.6:c.54+200828A>T MANE Select | ENSP00000357402.1:n.54+200828A>T | |
| ENST00000368416.5:c.54+200828A>T | ENSP00000357401.1:n.54+200828A>T | |
| ENST00000368417.5:c.54+200828A>T | ENSP00000357402.1:n.54+200828A>T | |
| ENST00000476571.1:n.115-116796A>T | ||
| NM_001040214.2:c.54+200828A>T | NP_001035304.1:n.54+200828A>T | |
| NM_001300737.1:c.-13-116796A>T | NP_001287666.1:n.-13-116796A>T | |
| NM_001300738.1:c.-231+200828A>T | NP_001287667.1:n.-231+200828A>T | |
| NM_001300740.1:c.-253+200651A>T | NP_001287669.1:n.-253+200651A>T | |
| NM_153355.4:c.54+200828A>T | NP_699186.2:n.54+200828A>T | |
| XM_005266834.2:c.54+200828A>T | XP_005266891.1:n.54+200828A>T | |
| XM_011535501.1:c.54+200828A>T | XP_011533803.1:n.54+200828A>T | |
| XM_011535503.1:c.54+200828A>T | XP_011533805.1:n.54+200828A>T | |
| XM_011535501.3:c.54+200828A>T | XP_011533803.1:n.54+200828A>T | |
| XM_011535503.3:c.54+200828A>T | XP_011533805.1:n.54+200828A>T | |
| XM_017010318.2:c.54+200828A>T | XP_016865807.1:n.54+200828A>T | |
| XM_017010319.2:c.54+200828A>T | XP_016865808.1:n.54+200828A>T | |
| XM_024446340.1:c.-13-116796A>T | XP_024302108.1:n.-13-116796A>T | |
| NM_001040214.3:c.54+200828A>T MANE Select | NP_001035304.1:n.54+200828A>T | |
| NM_001300737.2:c.-13-116796A>T | NP_001287666.1:n.-13-116796A>T | |
| NM_001300738.2:c.-231+200828A>T | NP_001287667.1:n.-231+200828A>T | |
| NM_153355.5:c.54+200828A>T | NP_699186.2:n.54+200828A>T |