Linked Data
dbSNP Id:
rs12190776
gnomAD v2:
6-124302543-C-G
gnomAD v3:
6-123981398-C-G
gnomAD v4:
6-123981398-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123981398C>G , CM000668.2:g.123981398C>G | GRCh38 |
| NC_000006.11:g.124302543C>G , CM000668.1:g.124302543C>G | GRCh37 |
| NC_000006.10:g.124344242C>G | NCBI36 |
| NG_021365.1:g.182475C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368417.6:c.54+177144C>G MANE Select | ENSP00000357402.1:n.54+177144C>G | |
| ENST00000368416.5:c.54+177144C>G | ENSP00000357401.1:n.54+177144C>G | |
| ENST00000368417.5:c.54+177144C>G | ENSP00000357402.1:n.54+177144C>G | |
| ENST00000476571.1:n.115-140480C>G | ||
| NM_001040214.2:c.54+177144C>G | NP_001035304.1:n.54+177144C>G | |
| NM_001300737.1:c.-13-140480C>G | NP_001287666.1:n.-13-140480C>G | |
| NM_001300738.1:c.-231+177144C>G | NP_001287667.1:n.-231+177144C>G | |
| NM_001300740.1:c.-253+176967C>G | NP_001287669.1:n.-253+176967C>G | |
| NM_153355.4:c.54+177144C>G | NP_699186.2:n.54+177144C>G | |
| XM_005266834.2:c.54+177144C>G | XP_005266891.1:n.54+177144C>G | |
| XM_011535501.1:c.54+177144C>G | XP_011533803.1:n.54+177144C>G | |
| XM_011535503.1:c.54+177144C>G | XP_011533805.1:n.54+177144C>G | |
| XM_011535501.3:c.54+177144C>G | XP_011533803.1:n.54+177144C>G | |
| XM_011535503.3:c.54+177144C>G | XP_011533805.1:n.54+177144C>G | |
| XM_017010318.2:c.54+177144C>G | XP_016865807.1:n.54+177144C>G | |
| XM_017010319.2:c.54+177144C>G | XP_016865808.1:n.54+177144C>G | |
| XM_024446340.1:c.-13-140480C>G | XP_024302108.1:n.-13-140480C>G | |
| NM_001040214.3:c.54+177144C>G MANE Select | NP_001035304.1:n.54+177144C>G | |
| NM_001300737.2:c.-13-140480C>G | NP_001287666.1:n.-13-140480C>G | |
| NM_001300738.2:c.-231+177144C>G | NP_001287667.1:n.-231+177144C>G | |
| NM_153355.5:c.54+177144C>G | NP_699186.2:n.54+177144C>G |