Linked Data
dbSNP Id:
rs12917712
gnomAD v2:
16-29882490-C-T
gnomAD v3:
16-29871169-C-T
gnomAD v4:
16-29871169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29871169C>T , CM000678.2:g.29871169C>T | GRCh38 |
| NC_000016.9:g.29882490C>T , CM000678.1:g.29882490C>T | GRCh37 |
| NC_000016.8:g.29789991C>T | NCBI36 |
| NG_029737.1:g.33096G>A | |
| NG_029737.2:g.33096G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617533.5:c.*530G>A MANE Select | ENSP00000481917.1:n.*530G>A | |
| ENST00000308713.9:c.*530G>A | ENSP00000312550.5:n.*530G>A | |
| ENST00000346932.9:c.*530G>A | ENSP00000319215.6:n.*530G>A | |
| ENST00000350527.7:c.*530G>A | ENSP00000310206.3:n.*530G>A | |
| ENST00000537485.5:c.*530G>A | ENSP00000439412.1:n.*530G>A | |
| ENST00000617533.4:c.*530G>A | ENSP00000481917.1:n.*530G>A | |
| NM_001114099.2:c.*530G>A | NP_001107571.1:n.*530G>A | |
| NM_001114100.2:c.*530G>A | NP_001107572.1:n.*530G>A | |
| NM_001243332.1:c.*530G>A | NP_001230261.1:n.*530G>A | |
| NM_001243333.1:c.*530G>A | NP_001230262.1:n.*530G>A | |
| NM_012410.3:c.*530G>A | NP_036542.1:n.*530G>A | |
| NM_201575.3:c.*530G>A | NP_963869.2:n.*530G>A | |
| XM_005255252.1:c.*530G>A | XP_005255309.1:n.*530G>A | |
| XM_005255252.3:c.*530G>A | XP_005255309.1:n.*530G>A | |
| XM_017023135.2:c.*530G>A | XP_016878624.1:n.*530G>A | |
| XM_024450229.1:c.*530G>A | XP_024305997.1:n.*530G>A | |
| NM_001114099.3:c.*530G>A | NP_001107571.1:n.*530G>A | |
| NM_001114100.3:c.*530G>A | NP_001107572.1:n.*530G>A | |
| NM_012410.4:c.*530G>A | NP_036542.1:n.*530G>A | |
| NM_201575.4:c.*530G>A | NP_963869.2:n.*530G>A | |
| NM_001243332.2:c.*530G>A MANE Select | NP_001230261.1:n.*530G>A | |
| NM_001243333.2:c.*530G>A | NP_001230262.1:n.*530G>A | |
| NM_001388363.1:c.*530G>A | NP_001375292.1:n.*530G>A | |
| NM_001388364.1:c.*530G>A | NP_001375293.1:n.*530G>A | |
| NM_001388365.1:c.*530G>A | NP_001375294.1:n.*530G>A |