Linked Data
dbSNP Id:
rs12526480
gnomAD v2:
6-25533534-T-G
gnomAD v3:
6-25533306-T-G
gnomAD v4:
6-25533306-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25533306T>G , CM000668.2:g.25533306T>G | GRCh38 |
| NC_000006.11:g.25533534T>G , CM000668.1:g.25533534T>G | GRCh37 |
| NC_000006.10:g.25641513T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700669.1:c.2067+4413T>G | ENSP00000515137.1:n.2067+4413T>G | |
| ENST00000329474.7:c.2067+4413T>G MANE Select | ENSP00000331983.6:n.2067+4413T>G | |
| ENST00000329474.6:c.2067+4413T>G | ENSP00000331983.6:n.2067+4413T>G | |
| ENST00000635618.1:c.849+4413T>G | ENSP00000489114.1:n.849+4413T>G | |
| NM_001173977.1:c.2067+4413T>G | NP_001167448.1:n.2067+4413T>G | |
| NM_017640.5:c.2067+4413T>G | NP_060110.4:n.2067+4413T>G | |
| XM_005249218.1:c.2067+4413T>G | XP_005249275.1:n.2067+4413T>G | |
| XM_011514732.1:c.2067+4413T>G | XP_011513034.1:n.2067+4413T>G | |
| XM_011514733.1:c.2067+4413T>G | XP_011513035.1:n.2067+4413T>G | |
| XM_011514734.1:c.2007+4413T>G | XP_011513036.1:n.2007+4413T>G | |
| XM_011514735.1:c.2067+4413T>G | XP_011513037.1:n.2067+4413T>G | |
| XM_011514736.1:c.2067+4413T>G | XP_011513038.1:n.2067+4413T>G | |
| XM_011514737.1:c.2067+4413T>G | XP_011513039.1:n.2067+4413T>G | |
| XM_017011008.1:c.2079+4413T>G | XP_016866497.1:n.2079+4413T>G | |
| XM_017011009.1:c.2079+4413T>G | XP_016866498.1:n.2079+4413T>G | |
| XM_017011010.1:c.2067+4413T>G | XP_016866499.1:n.2067+4413T>G | |
| XM_017011011.1:c.2079+4413T>G | XP_016866500.1:n.2079+4413T>G | |
| XM_017011012.1:c.2079+4413T>G | XP_016866501.1:n.2079+4413T>G | |
| XM_017011013.1:c.2079+4413T>G | XP_016866502.1:n.2079+4413T>G | |
| XM_017011014.1:c.2019+4413T>G | XP_016866503.1:n.2019+4413T>G | |
| XM_017011015.1:c.2079+4413T>G | XP_016866504.1:n.2079+4413T>G | |
| XM_017011016.1:c.2079+4413T>G | XP_016866505.1:n.2079+4413T>G | |
| XM_017011017.1:c.2079+4413T>G | XP_016866506.1:n.2079+4413T>G | |
| XM_024446484.1:c.2079+4413T>G | XP_024302252.1:n.2079+4413T>G | |
| XM_024446485.1:c.2079+4413T>G | XP_024302253.1:n.2079+4413T>G | |
| NM_017640.6:c.2067+4413T>G MANE Select | NP_060110.4:n.2067+4413T>G | |
| NM_001173977.2:c.2067+4413T>G | NP_001167448.1:n.2067+4413T>G |