Linked Data
dbSNP Id:
rs772341264
ExAC:
2:163138107 A / G
gnomAD v2:
2-163138107-A-G
gnomAD v4:
2-162281597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281597A>G , CM000664.2:g.162281597A>G | GRCh38 |
| NC_000002.11:g.163138107A>G , CM000664.1:g.163138107A>G | GRCh37 |
| NC_000002.10:g.162846353A>G | NCBI36 |
| NG_011495.1:g.41933T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*904-52T>C | ENSP00000513228.1:n.*904-52T>C | |
| ENST00000648433.1:c.1307-52T>C | ENSP00000496816.1:n.1307-52T>C | |
| ENST00000649554.1:n.917-52T>C | ||
| ENST00000649979.2:c.1307-52T>C MANE Select | ENSP00000497271.1:n.1307-52T>C | |
| ENST00000679938.1:c.995-52T>C | ENSP00000505518.1:n.995-52T>C | |
| ENST00000263642.2:c.1307-52T>C | ENSP00000263642.2:n.1307-52T>C | |
| NM_022168.3:c.1307-52T>C | NP_071451.2:n.1307-52T>C | |
| XM_011511628.1:c.590-52T>C | XP_011509930.1:n.590-52T>C | |
| XM_011511629.1:c.1307-52T>C | XP_011509931.1:n.1307-52T>C | |
| NM_022168.4:c.1307-52T>C MANE Select | NP_071451.2:n.1307-52T>C |