Linked Data
dbSNP Id:
rs570605809
gnomAD v2:
2-163138238-G-A
gnomAD v3:
2-162281728-G-A
gnomAD v4:
2-162281728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281728G>A , CM000664.2:g.162281728G>A | GRCh38 |
| NC_000002.11:g.163138238G>A , CM000664.1:g.163138238G>A | GRCh37 |
| NC_000002.10:g.162846484G>A | NCBI36 |
| NG_011495.1:g.41802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*904-183C>T | ENSP00000513228.1:n.*904-183C>T | |
| ENST00000648433.1:c.1307-183C>T | ENSP00000496816.1:n.1307-183C>T | |
| ENST00000649554.1:n.917-183C>T | ||
| ENST00000649979.2:c.1307-183C>T MANE Select | ENSP00000497271.1:n.1307-183C>T | |
| ENST00000679938.1:c.995-183C>T | ENSP00000505518.1:n.995-183C>T | |
| ENST00000263642.2:c.1307-183C>T | ENSP00000263642.2:n.1307-183C>T | |
| NM_022168.3:c.1307-183C>T | NP_071451.2:n.1307-183C>T | |
| XM_011511628.1:c.590-183C>T | XP_011509930.1:n.590-183C>T | |
| XM_011511629.1:c.1307-183C>T | XP_011509931.1:n.1307-183C>T | |
| NM_022168.4:c.1307-183C>T MANE Select | NP_071451.2:n.1307-183C>T |