Linked Data
dbSNP Id:
rs2027760
gnomAD v2:
11-73036481-G-A
gnomAD v3:
11-73325436-G-A
gnomAD v4:
11-73325436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73325436G>A , CM000673.2:g.73325436G>A | GRCh38 |
| NC_000011.9:g.73036481G>A , CM000673.1:g.73036481G>A | GRCh37 |
| NC_000011.8:g.72714129G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263674.4:c.3192+13606G>A MANE Select | ENSP00000263674.3:n.3192+13606G>A | |
| ENST00000263674.3:c.3192+13606G>A | ENSP00000263674.3:n.3192+13606G>A | |
| ENST00000544519.1:c.266+13606G>A | ||
| NM_014786.3:c.3192+13606G>A | NP_055601.2:n.3192+13606G>A | |
| XM_011545405.1:c.3192+13606G>A | XP_011543707.1:n.3192+13606G>A | |
| XM_011545406.1:c.3192+13606G>A | XP_011543708.1:n.3192+13606G>A | |
| XM_011545407.1:c.174+17872G>A | XP_011543709.1:n.174+17872G>A | |
| XR_950116.1:n.3382+13606G>A | ||
| XM_017018623.1:c.174+17872G>A | XP_016874112.1:n.174+17872G>A | |
| XR_001748051.1:n.3534+13606G>A | ||
| XR_001748052.1:n.3534+13606G>A | ||
| XR_950116.2:n.3534+13606G>A | ||
| NM_014786.4:c.3192+13606G>A MANE Select | NP_055601.2:n.3192+13606G>A |