Linked Data
dbSNP Id:
rs760564199
ExAC:
2:163139127 G / A
gnomAD v2:
2-163139127-G-A
gnomAD v4:
2-162282617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282617G>A , CM000664.2:g.162282617G>A | GRCh38 |
| NC_000002.11:g.163139127G>A , CM000664.1:g.163139127G>A | GRCh37 |
| NC_000002.10:g.162847373G>A | NCBI36 |
| NG_011495.1:g.40913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*693-41C>T | ENSP00000513228.1:n.*693-41C>T | |
| ENST00000648433.1:c.1096-41C>T | ENSP00000496816.1:n.1096-41C>T | |
| ENST00000649554.1:n.706-41C>T | ||
| ENST00000649979.2:c.1096-41C>T MANE Select | ENSP00000497271.1:n.1096-41C>T | |
| ENST00000679938.1:c.784-41C>T | ENSP00000505518.1:n.784-41C>T | |
| ENST00000263642.2:c.1096-41C>T | ENSP00000263642.2:n.1096-41C>T | |
| NM_022168.3:c.1096-41C>T | NP_071451.2:n.1096-41C>T | |
| XM_011511628.1:c.379-41C>T | XP_011509930.1:n.379-41C>T | |
| XM_011511629.1:c.1096-41C>T | XP_011509931.1:n.1096-41C>T | |
| NM_022168.4:c.1096-41C>T MANE Select | NP_071451.2:n.1096-41C>T |