Linked Data
dbSNP Id:
rs1332844
gnomAD v2:
6-12889004-C-T
gnomAD v3:
6-12888772-C-T
gnomAD v4:
6-12888772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12888772C>T , CM000668.2:g.12888772C>T | GRCh38 |
| NC_000006.11:g.12889004C>T , CM000668.1:g.12889004C>T | GRCh37 |
| NC_000006.10:g.12996990C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689397.1:n.2822-15322C>T | ||
| ENST00000689548.1:c.112+138982C>T | ENSP00000509837.1:n.112+138982C>T | |
| ENST00000690071.1:n.431-13893C>T | ||
| ENST00000692662.1:n.408+138982C>T | ||
| ENST00000693693.1:n.1116+138982C>T | ||
| ENST00000332995.12:c.250+138982C>T MANE Select | ENSP00000329880.8:n.250+138982C>T | |
| ENST00000379348.3:n.428-44861C>T | ||
| ENST00000406205.7:c.112+138982C>T | ENSP00000384760.3:n.112+138982C>T | |
| ENST00000674595.1:c.250+138982C>T | ENSP00000502157.1:n.250+138982C>T | |
| ENST00000674637.1:c.250+138982C>T | ENSP00000501634.1:n.250+138982C>T | |
| ENST00000676159.1:c.250+138982C>T | ENSP00000501921.1:n.250+138982C>T | |
| ENST00000332995.11:c.250+138982C>T | ENSP00000329880.8:n.250+138982C>T | |
| ENST00000379348.2:c.251-44861C>T | ENSP00000368653.2:n.251-44861C>T | |
| ENST00000379350.5:c.250+138982C>T | ENSP00000368655.1:n.250+138982C>T | |
| ENST00000406205.6:c.356+138982C>T | ||
| NM_001242648.1:c.250+138982C>T | NP_001229577.1:n.250+138982C>T | |
| NM_030948.2:c.250+138982C>T | NP_112210.1:n.250+138982C>T | |
| XM_005248933.1:c.250+138982C>T | XP_005248990.1:n.250+138982C>T | |
| XM_005248934.1:c.250+138982C>T | XP_005248991.1:n.250+138982C>T | |
| XM_005248935.3:c.250+138982C>T | XP_005248992.1:n.250+138982C>T | |
| XM_011514390.1:c.250+138982C>T | XP_011512692.1:n.250+138982C>T | |
| NM_001242648.2:c.250+138982C>T | NP_001229577.1:n.250+138982C>T | |
| NM_001322308.1:c.250+138982C>T | NP_001309237.1:n.250+138982C>T | |
| NM_001322309.1:c.250+138982C>T | NP_001309238.1:n.250+138982C>T | |
| NM_001322310.1:c.250+138982C>T | NP_001309239.1:n.250+138982C>T | |
| NM_030948.3:c.250+138982C>T | NP_112210.1:n.250+138982C>T | |
| XM_005248934.3:c.250+138982C>T | XP_005248991.1:n.250+138982C>T | |
| XM_017010454.2:c.250+138982C>T | XP_016865943.1:n.250+138982C>T | |
| XM_017010455.2:c.250+138982C>T | XP_016865944.1:n.250+138982C>T | |
| XM_017010456.2:c.250+138982C>T | XP_016865945.1:n.250+138982C>T | |
| XM_017010457.2:c.250+138982C>T | XP_016865946.1:n.250+138982C>T | |
| XM_017010459.2:c.250+138982C>T | XP_016865948.1:n.250+138982C>T | |
| XM_017010460.2:c.250+138982C>T | XP_016865949.1:n.250+138982C>T | |
| XM_017010461.2:c.250+138982C>T | XP_016865950.1:n.250+138982C>T | |
| XM_017010462.2:c.250+138982C>T | XP_016865951.1:n.250+138982C>T | |
| NM_001242648.3:c.250+138982C>T | NP_001229577.1:n.250+138982C>T | |
| NM_001322308.2:c.250+138982C>T | NP_001309237.1:n.250+138982C>T | |
| NM_001322309.2:c.250+138982C>T | NP_001309238.1:n.250+138982C>T | |
| NM_001374581.1:c.250+138982C>T | NP_001361510.1:n.250+138982C>T | |
| NM_001374582.1:c.250+138982C>T | NP_001361511.1:n.250+138982C>T | |
| NM_001374584.1:c.251-13893C>T | NP_001361513.1:n.251-13893C>T | |
| NM_030948.5:c.250+138982C>T | NP_112210.1:n.250+138982C>T | |
| NM_001242648.4:c.250+138982C>T | NP_001229577.1:n.250+138982C>T | |
| NM_001322308.3:c.250+138982C>T | NP_001309237.1:n.250+138982C>T | |
| NM_001322309.3:c.250+138982C>T | NP_001309238.1:n.250+138982C>T | |
| NM_001322310.2:c.250+138982C>T | NP_001309239.1:n.250+138982C>T | |
| NM_001374581.2:c.250+138982C>T | NP_001361510.1:n.250+138982C>T | |
| NM_030948.6:c.250+138982C>T MANE Select | NP_112210.1:n.250+138982C>T |