Linked Data
dbSNP Id:
rs961305865
gnomAD v2:
2-163132368-G-A
gnomAD v3:
2-162275858-G-A
gnomAD v4:
2-162275858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162275858G>A , CM000664.2:g.162275858G>A | GRCh38 |
| NC_000002.11:g.163132368G>A , CM000664.1:g.163132368G>A | GRCh37 |
| NC_000002.10:g.162840614G>A | NCBI36 |
| NG_011495.1:g.47672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1901+829C>T | ENSP00000513228.1:n.*1901+829C>T | |
| ENST00000648433.1:c.2187+829C>T | ENSP00000496816.1:n.2187+829C>T | |
| ENST00000649554.1:n.1914+829C>T | ||
| ENST00000649979.2:c.2304+829C>T MANE Select | ENSP00000497271.1:n.2304+829C>T | |
| ENST00000679938.1:c.1992+829C>T | ENSP00000505518.1:n.1992+829C>T | |
| ENST00000263642.2:c.2304+829C>T | ENSP00000263642.2:n.2304+829C>T | |
| NM_022168.3:c.2304+829C>T | NP_071451.2:n.2304+829C>T | |
| XM_011511628.1:c.1587+829C>T | XP_011509930.1:n.1587+829C>T | |
| NM_022168.4:c.2304+829C>T MANE Select | NP_071451.2:n.2304+829C>T |