Linked Data
dbSNP Id:
rs770504813
ExAC:
6:31937133 A / C
gnomAD v2:
6-31937133-A-C
gnomAD v4:
6-31969356-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969356A>C , CM000668.2:g.31969356A>C | GRCh38 |
| NC_000006.11:g.31937133A>C , CM000668.1:g.31937133A>C | GRCh37 |
| NC_000006.10:g.32045112A>C | NCBI36 |
| NG_032652.1:g.15553A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2430A>C | ENSP00000419905.1:n.*2430A>C | |
| ENST00000483553.6:c.*443A>C | ENSP00000420332.2:n.*443A>C | |
| ENST00000485349.6:n.3952A>C | ||
| ENST00000491994.2:c.3476A>C | ENSP00000417586.2:p.Glu1159Ala | |
| ENST00000494058.6:n.3778A>C | ||
| ENST00000697831.1:c.3407A>C | ENSP00000513453.1:p.Glu1136Ala | |
| ENST00000697832.1:n.3629A>C | ||
| ENST00000697833.1:c.*424A>C | ENSP00000513454.1:n.*424A>C | |
| ENST00000697834.1:n.4100A>C | ||
| ENST00000697835.1:c.*2994A>C | ENSP00000513455.1:n.*2994A>C | |
| ENST00000697836.1:n.3807A>C | ||
| ENST00000697837.1:c.*592A>C | ENSP00000513456.1:n.*592A>C | |
| ENST00000697838.1:c.3341A>C | ENSP00000513457.1:p.Glu1114Ala | |
| ENST00000697839.1:n.4194A>C | ||
| ENST00000697840.1:c.3512A>C | ENSP00000513458.1:p.Glu1171Ala | |
| ENST00000697841.1:n.4293A>C | ||
| ENST00000697842.1:n.3731A>C | ||
| ENST00000375394.7:c.3476A>C MANE Select | ENSP00000364543.2:p.Glu1159Ala | |
| ENST00000375394.6:c.3476A>C | ENSP00000364543.2:p.Glu1159Ala | |
| ENST00000465703.5:n.4112A>C | ||
| ENST00000470453.1:n.382+40A>C | ||
| ENST00000471818.1:n.405A>C | ||
| ENST00000474839.5:c.*2848A>C | ENSP00000420470.1:n.*2848A>C | |
| ENST00000483553.5:c.912A>C | ||
| ENST00000485349.5:n.682A>C | ||
| ENST00000491994.1:c.471A>C | ||
| NM_006929.4:c.3476A>C | NP_008860.4:p.Glu1159Ala | |
| XR_001743586.2:n.3575A>C | ||
| XR_926301.3:n.3492A>C | ||
| NM_006929.5:c.3476A>C MANE Select | NP_008860.4:p.Glu1159Ala |