Linked Data
dbSNP Id:
rs10763976
gnomAD v2:
10-34564292-G-A
gnomAD v3:
10-34275364-G-A
gnomAD v4:
10-34275364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.34275364G>A , CM000672.2:g.34275364G>A | GRCh38 |
| NC_000010.10:g.34564292G>A , CM000672.1:g.34564292G>A | GRCh37 |
| NC_000010.9:g.34604298G>A | NCBI36 |
| NG_052602.1:g.544962C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696673.1:c.3105-5465C>T | ENSP00000512797.1:n.3105-5465C>T | |
| ENST00000346874.9:c.3075-5465C>T | ENSP00000340591.4:n.3075-5465C>T | |
| ENST00000350537.9:c.3048-5465C>T | ENSP00000311986.6:n.3048-5465C>T | |
| ENST00000374788.8:c.3177-5465C>T MANE Select | ENSP00000363920.3:n.3177-5465C>T | |
| ENST00000374789.8:c.3186-5465C>T | ENSP00000363921.3:n.3186-5465C>T | |
| ENST00000374790.8:c.3006-5465C>T | ENSP00000363922.3:n.3006-5465C>T | |
| ENST00000374794.8:c.2850-5465C>T | ENSP00000363926.3:n.2850-5465C>T | |
| ENST00000346874.8:c.3075-5465C>T | ENSP00000340591.4:n.3075-5465C>T | |
| ENST00000350537.8:c.3048-5465C>T | ENSP00000311986.6:n.3048-5465C>T | |
| ENST00000374788.7:c.3177-5465C>T | ENSP00000363920.3:n.3177-5465C>T | |
| ENST00000374789.7:c.3186-5465C>T | ENSP00000363921.3:n.3186-5465C>T | |
| ENST00000374790.7:c.3006-5465C>T | ENSP00000363922.3:n.3006-5465C>T | |
| ENST00000374794.7:c.2850-5465C>T | ENSP00000363926.3:n.2850-5465C>T | |
| ENST00000466092.1:n.694-5465C>T | ||
| ENST00000545260.5:c.2916-5465C>T | ENSP00000440857.1:n.2916-5465C>T | |
| ENST00000545693.5:c.3138-5465C>T | ENSP00000443147.1:n.3138-5465C>T | |
| NM_001184785.1:c.3177-5465C>T | NP_001171714.1:n.3177-5465C>T | |
| NM_001184786.1:c.3138-5465C>T | NP_001171715.1:n.3138-5465C>T | |
| NM_001184787.1:c.3075-5465C>T | NP_001171716.1:n.3075-5465C>T | |
| NM_001184788.1:c.3048-5465C>T | NP_001171717.1:n.3048-5465C>T | |
| NM_001184789.1:c.2937-5465C>T | NP_001171718.1:n.2937-5465C>T | |
| NM_001184790.1:c.2916-5465C>T | NP_001171719.1:n.2916-5465C>T | |
| NM_001184791.1:c.2850-5465C>T | NP_001171720.1:n.2850-5465C>T | |
| NM_019619.3:c.3186-5465C>T | NP_062565.2:n.3186-5465C>T | |
| XM_005252528.3:c.3174-5465C>T | XP_005252585.1:n.3174-5465C>T | |
| XM_005252530.3:c.3132-5465C>T | XP_005252587.1:n.3132-5465C>T | |
| XM_005252531.3:c.3087-5465C>T | XP_005252588.1:n.3087-5465C>T | |
| XM_005252532.3:c.3045-5465C>T | XP_005252589.1:n.3045-5465C>T | |
| XM_011519569.1:c.3183-5465C>T | XP_011517871.1:n.3183-5465C>T | |
| XM_011519570.1:c.3147-5465C>T | XP_011517872.1:n.3147-5465C>T | |
| XM_011519571.1:c.3141-5465C>T | XP_011517873.1:n.3141-5465C>T | |
| XM_011519572.1:c.3138-5465C>T | XP_011517874.1:n.3138-5465C>T | |
| XM_011519573.1:c.3096-5465C>T | XP_011517875.1:n.3096-5465C>T | |
| XM_011519574.1:c.3090-5465C>T | XP_011517876.1:n.3090-5465C>T | |
| XM_011519575.1:c.3084-5465C>T | XP_011517877.1:n.3084-5465C>T | |
| XM_011519576.1:c.3054-5465C>T | XP_011517878.1:n.3054-5465C>T | |
| XM_011519577.1:c.3018-5465C>T | XP_011517879.1:n.3018-5465C>T | |
| XM_011519578.1:c.3012-5465C>T | XP_011517880.1:n.3012-5465C>T | |
| XM_011519579.1:c.2952-5465C>T | XP_011517881.1:n.2952-5465C>T | |
| XM_011519580.1:c.3074+41743C>T | XP_011517882.1:n.3074+41743C>T | |
| XM_011519581.1:c.3186-5465C>T | XP_011517883.1:n.3186-5465C>T | |
| XM_011519582.1:c.2376-5465C>T | XP_011517884.1:n.2376-5465C>T | |
| NM_001184785.2:c.3177-5465C>T MANE Select | NP_001171714.1:n.3177-5465C>T | |
| NM_001184787.2:c.3075-5465C>T | NP_001171716.1:n.3075-5465C>T | |
| NM_001184788.2:c.3048-5465C>T | NP_001171717.1:n.3048-5465C>T | |
| NM_001184789.2:c.2937-5465C>T | NP_001171718.1:n.2937-5465C>T | |
| NM_001184791.2:c.2850-5465C>T | NP_001171720.1:n.2850-5465C>T | |
| NM_019619.4:c.3186-5465C>T | NP_062565.2:n.3186-5465C>T | |
| NM_001184786.2:c.3138-5465C>T | NP_001171715.1:n.3138-5465C>T | |
| NM_001184790.2:c.2916-5465C>T | NP_001171719.1:n.2916-5465C>T |