Linked Data
dbSNP Id:
rs13191240
gnomAD v2:
6-69675459-T-C
gnomAD v3:
6-68965567-T-C
gnomAD v4:
6-68965567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.68965567T>C , CM000668.2:g.68965567T>C | GRCh38 |
| NC_000006.11:g.69675459T>C , CM000668.1:g.69675459T>C | GRCh37 |
| NC_000006.10:g.69732180T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684661.1:c.1525+8758T>C | ENSP00000507613.1:n.1525+8758T>C | |
| ENST00000370598.6:c.1525+8758T>C MANE Select | ENSP00000359630.1:n.1525+8758T>C | |
| ENST00000370598.5:c.1525+8758T>C | ENSP00000359630.1:n.1525+8758T>C | |
| ENST00000546190.5:c.1525+8758T>C | ENSP00000441821.2:n.1525+8758T>C | |
| NM_001704.2:c.1525+8758T>C | NP_001695.1:n.1525+8758T>C | |
| XM_005248752.2:c.1525+8758T>C | XP_005248809.1:n.1525+8758T>C | |
| XM_006715534.2:c.1525+8758T>C | XP_006715597.1:n.1525+8758T>C | |
| XM_011536008.1:c.1525+8758T>C | XP_011534310.1:n.1525+8758T>C | |
| XM_011536009.1:c.760+8758T>C | XP_011534311.1:n.760+8758T>C | |
| XM_011536010.1:c.526+8758T>C | XP_011534312.1:n.526+8758T>C | |
| XM_011536012.1:c.1525+8758T>C | XP_011534314.1:n.1525+8758T>C | |
| XM_011536013.1:c.1525+8758T>C | XP_011534315.1:n.1525+8758T>C | |
| XM_005248752.3:c.1525+8758T>C | XP_005248809.1:n.1525+8758T>C | |
| XM_006715534.4:c.1525+8758T>C | XP_006715597.1:n.1525+8758T>C | |
| XM_011536009.2:c.760+8758T>C | XP_011534311.1:n.760+8758T>C | |
| XM_011536011.3:c.-244+8758T>C | XP_011534313.1:n.-244+8758T>C | |
| XM_011536012.3:c.1525+8758T>C | XP_011534314.1:n.1525+8758T>C | |
| XM_017011140.1:c.1525+8758T>C | XP_016866629.1:n.1525+8758T>C | |
| XM_017011142.2:c.1525+8758T>C | XP_016866631.1:n.1525+8758T>C | |
| XM_017011143.2:c.1525+8758T>C | XP_016866632.1:n.1525+8758T>C | |
| XM_017011144.2:c.1525+8758T>C | XP_016866633.1:n.1525+8758T>C | |
| XM_024446501.1:c.526+8758T>C | XP_024302269.1:n.526+8758T>C | |
| XM_024446502.1:c.-33+144T>C | XP_024302270.1:n.-33+144T>C | |
| XM_024446503.1:c.-244+8758T>C | XP_024302271.1:n.-244+8758T>C | |
| XM_024446504.1:c.-244+8758T>C | XP_024302272.1:n.-244+8758T>C | |
| NM_001704.3:c.1525+8758T>C MANE Select | NP_001695.2:n.1525+8758T>C |