Linked Data
dbSNP Id:
rs12207186
gnomAD v2:
6-162314921-A-T
gnomAD v3:
6-161893889-A-T
gnomAD v4:
6-161893889-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161893889A>T , CM000668.2:g.161893889A>T | GRCh38 |
| NC_000006.11:g.162314921A>T , CM000668.1:g.162314921A>T | GRCh37 |
| NC_000006.10:g.162234911A>T | NCBI36 |
| NG_008289.1:g.838914T>A | |
| NG_008289.2:g.838914T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338468.8:c.612+79413T>A | ENSP00000343589.4:n.612+79413T>A | |
| ENST00000366894.6:c.493+79413T>A | ENSP00000355860.2:n.493+79413T>A | |
| ENST00000366898.6:c.734+79413T>A MANE Select | ENSP00000355865.1:n.734+79413T>A | |
| ENST00000673871.1:c.729+79413T>A | ||
| ENST00000674436.1:n.370+79413T>A | ||
| ENST00000674501.1:n.841+79413T>A | ||
| ENST00000338468.7:c.161+79413T>A | ENSP00000343589.3:n.161+79413T>A | |
| ENST00000366892.5:c.734+79413T>A | ENSP00000355858.1:n.734+79413T>A | |
| ENST00000366894.5:c.161+79413T>A | ENSP00000355860.1:n.161+79413T>A | |
| ENST00000366896.5:c.287+79413T>A | ENSP00000355862.1:n.287+79413T>A | |
| ENST00000366897.5:c.650+79413T>A | ENSP00000355863.1:n.650+79413T>A | |
| ENST00000366898.5:c.734+79413T>A | ENSP00000355865.1:n.734+79413T>A | |
| ENST00000479615.5:c.497+79413T>A | ENSP00000434414.1:n.497+79413T>A | |
| NM_004562.2:c.734+79413T>A | NP_004553.2:n.734+79413T>A | |
| NM_013987.2:c.650+79413T>A | NP_054642.2:n.650+79413T>A | |
| NM_013988.2:c.287+79413T>A | NP_054643.2:n.287+79413T>A | |
| XM_011535863.1:c.731+79413T>A | XP_011534165.1:n.731+79413T>A | |
| XM_011535864.1:c.734+79413T>A | XP_011534166.1:n.734+79413T>A | |
| XM_011535865.1:c.734+79413T>A | XP_011534167.1:n.734+79413T>A | |
| XM_017010908.1:c.848+79413T>A | XP_016866397.1:n.848+79413T>A | |
| XM_017010909.2:c.494+79413T>A | XP_016866398.1:n.494+79413T>A | |
| XM_024446449.1:c.497+79413T>A | XP_024302217.1:n.497+79413T>A | |
| XR_001743443.2:n.840+79413T>A | ||
| NM_004562.3:c.734+79413T>A MANE Select | NP_004553.2:n.734+79413T>A | |
| NM_013987.3:c.650+79413T>A | NP_054642.2:n.650+79413T>A | |
| NM_013988.3:c.287+79413T>A | NP_054643.2:n.287+79413T>A |