Linked Data
dbSNP Id:
rs1293329797
gnomAD v2:
15-58902991-G-A
gnomAD v3:
15-58610792-G-A
gnomAD v4:
15-58610792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58610792G>A , CM000677.2:g.58610792G>A | GRCh38 |
| NC_000015.9:g.58902991G>A , CM000677.1:g.58902991G>A | GRCh37 |
| NC_000015.8:g.56690283G>A | NCBI36 |
| NG_033876.1:g.144187C>T | |
| NG_033876.2:g.143916C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.1804+207C>T MANE Select | ENSP00000260408.3:n.1804+207C>T | |
| ENST00000260408.7:c.1804+207C>T | ENSP00000260408.3:n.1804+207C>T | |
| ENST00000396136.6:c.1630+207C>T | ||
| ENST00000402627.5:c.155-13274C>T | ENSP00000386056.1:n.155-13274C>T | |
| ENST00000470269.5:n.333+207C>T | ||
| ENST00000482945.5:n.1234C>T | ||
| ENST00000561288.1:c.56-13274C>T | ENSP00000452639.1:n.56-13274C>T | |
| NM_001110.3:c.1804+207C>T | NP_001101.1:n.1804+207C>T | |
| XM_005254117.2:c.1711+207C>T | XP_005254174.1:n.1711+207C>T | |
| NM_001320570.1:c.1711+207C>T | NP_001307499.1:n.1711+207C>T | |
| XM_024449818.1:c.1582+207C>T | XP_024305586.1:n.1582+207C>T | |
| NM_001110.4:c.1804+207C>T MANE Select | NP_001101.1:n.1804+207C>T | |
| NM_001320570.2:c.1711+207C>T | NP_001307499.1:n.1711+207C>T |