Linked Data
ClinVar Variation Id:
522267
dbSNP Id:
rs1015159398
gnomAD v3:
8-1923087-T-C
gnomAD v4:
8-1923087-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1923087T>C , CM000670.2:g.1923087T>C | GRCh38 |
| NC_000008.10:g.1871253T>C , CM000670.1:g.1871253T>C | GRCh37 |
| NC_000008.9:g.1858660T>C | NCBI36 |
| NG_008480.1:g.104105T>C , LRG_234:g.104105T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349830.8:c.2259+8T>C MANE Select | ENSP00000340297.3:n.2259+8T>C | |
| ENST00000635773.1:c.2787+8T>C | ||
| ENST00000635855.1:c.*2213+8T>C | ENSP00000489726.1:n.*2213+8T>C | |
| ENST00000349830.7:c.2259+8T>C | ENSP00000340297.3:n.2259+8T>C | |
| ENST00000398564.5:c.2334+8T>C | ENSP00000381571.1:n.2334+8T>C | |
| ENST00000518288.5:c.2331+8T>C | ENSP00000431012.1:n.2331+8T>C | |
| ENST00000520359.5:c.2145+8T>C | ENSP00000427909.1:n.2145+8T>C | |
| ENST00000522435.5:c.1278+8T>C | ENSP00000427768.1:n.1278+8T>C | |
| ENST00000523711.5:n.1983+8T>C | ||
| ENST00000524212.1:n.515+8T>C | ||
| NM_001308152.1:c.2145+8T>C | NP_001295081.1:n.2145+8T>C | |
| NM_001308153.1:c.2331+8T>C | NP_001295082.1:n.2331+8T>C | |
| NM_014629.2:c.2259+8T>C , LRG_234t1:c.2259+8T>C | NP_055444.2:n.2259+8T>C | |
| NM_014629.3:c.2259+8T>C | NP_055444.2:n.2259+8T>C | |
| XM_005266041.2:c.2262+8T>C | XP_005266098.1:n.2262+8T>C | |
| XM_011534766.1:c.2262+8T>C | XP_011533068.1:n.2262+8T>C | |
| XM_011534767.1:c.2142+8T>C | XP_011533069.1:n.2142+8T>C | |
| XM_011534768.1:c.2262+8T>C | XP_011533070.1:n.2262+8T>C | |
| XM_011534769.1:c.2217+8T>C | XP_011533071.1:n.2217+8T>C | |
| XM_011534770.1:c.2262+8T>C | XP_011533072.1:n.2262+8T>C | |
| XM_005266041.4:c.2262+8T>C | XP_005266098.1:n.2262+8T>C | |
| XM_011534767.2:c.2142+8T>C | XP_011533069.1:n.2142+8T>C | |
| XM_011534770.2:c.2262+8T>C | XP_011533072.1:n.2262+8T>C | |
| XM_017014003.1:c.2334+8T>C | XP_016869492.1:n.2334+8T>C | |
| XM_024447334.1:c.2262+8T>C | XP_024303102.1:n.2262+8T>C | |
| XM_024447335.1:c.2346+8T>C | XP_024303103.1:n.2346+8T>C | |
| NM_014629.4:c.2259+8T>C MANE Select | NP_055444.2:n.2259+8T>C | |
| NM_001308152.2:c.2145+8T>C | NP_001295081.1:n.2145+8T>C | |
| NM_001308153.2:c.2331+8T>C | NP_001295082.1:n.2331+8T>C |