Linked Data
dbSNP Id:
rs10898459
gnomAD v2:
11-85972939-T-C
gnomAD v3:
11-86261897-T-C
gnomAD v4:
11-86261897-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86261897T>C , CM000673.2:g.86261897T>C | GRCh38 |
| NC_000011.9:g.85972939T>C , CM000673.1:g.85972939T>C | GRCh37 |
| NC_000011.8:g.85650587T>C | NCBI36 |
| NG_029595.1:g.22134T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707108.1:c.530-2275T>C | ENSP00000516737.1:n.530-2275T>C | |
| ENST00000263360.11:c.635-2275T>C MANE Select | ENSP00000263360.6:n.635-2275T>C | |
| ENST00000672825.1:c.635-2275T>C | ENSP00000500834.1:n.635-2275T>C | |
| ENST00000673233.2:c.815-2275T>C | ENSP00000500914.2:n.815-2275T>C | |
| ENST00000263360.10:c.635-2275T>C | ENSP00000263360.6:n.635-2275T>C | |
| ENST00000327320.8:c.635-2275T>C | ENSP00000315587.4:n.635-2275T>C | |
| ENST00000351625.10:c.635-2275T>C | ENSP00000338186.5:n.635-2275T>C | |
| ENST00000525244.5:n.597-2275T>C | ||
| ENST00000528180.5:c.635-2275T>C | ENSP00000431778.1:n.635-2275T>C | |
| ENST00000534595.1:c.111-15083T>C | ||
| NM_001308007.1:c.635-2275T>C | NP_001294936.1:n.635-2275T>C | |
| NM_003797.3:c.635-2275T>C | NP_003788.2:n.635-2275T>C | |
| NM_003797.4:c.635-2275T>C | NP_003788.2:n.635-2275T>C | |
| NM_152991.2:c.635-2275T>C | NP_694536.1:n.635-2275T>C | |
| XM_005274373.1:c.635-2275T>C | XP_005274430.1:n.635-2275T>C | |
| XM_011545330.1:c.635-2275T>C | XP_011543632.1:n.635-2275T>C | |
| XM_011545331.1:c.635-2275T>C | XP_011543633.1:n.635-2275T>C | |
| XR_247215.2:n.1321-2275T>C | ||
| NM_001330334.1:c.635-2275T>C | NP_001317263.1:n.635-2275T>C | |
| XM_011545330.2:c.635-2275T>C | XP_011543632.1:n.635-2275T>C | |
| XM_011545331.2:c.635-2275T>C | XP_011543633.1:n.635-2275T>C | |
| XM_017018512.2:c.635-2275T>C | XP_016874001.1:n.635-2275T>C | |
| XM_017018513.2:c.635-2275T>C | XP_016874002.1:n.635-2275T>C | |
| XR_001748022.2:n.1112-2275T>C | ||
| XR_247215.4:n.1112-2275T>C | ||
| NM_003797.5:c.635-2275T>C MANE Select | NP_003788.2:n.635-2275T>C | |
| NM_001308007.2:c.635-2275T>C | NP_001294936.1:n.635-2275T>C | |
| NM_001330334.2:c.635-2275T>C | NP_001317263.1:n.635-2275T>C |