Linked Data
dbSNP Id:
rs1053129950
gnomAD v2:
18-28669182-A-G
gnomAD v3:
18-31089219-A-G
gnomAD v4:
18-31089219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31089219A>G , CM000680.2:g.31089219A>G | GRCh38 |
| NC_000018.9:g.28669182A>G , CM000680.1:g.28669182A>G | GRCh37 |
| NC_000018.8:g.26923180A>G | NCBI36 |
| NG_008208.2:g.18207T>C , LRG_400:g.18207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.201+220T>C | ENSP00000507826.1:n.201+220T>C | |
| ENST00000251081.8:c.630+220T>C | ENSP00000251081.6:n.630+220T>C | |
| ENST00000280904.11:c.630+220T>C MANE Select | ENSP00000280904.6:n.630+220T>C | |
| ENST00000648081.1:c.201+220T>C | ENSP00000497441.1:n.201+220T>C | |
| ENST00000251081.6:c.630+220T>C | ENSP00000251081.6:n.630+220T>C | |
| ENST00000280904.10:c.630+220T>C | ENSP00000280904.6:n.630+220T>C | |
| NM_004949.4:c.630+220T>C | NP_004940.1:n.630+220T>C | |
| NM_024422.4:c.630+220T>C | NP_077740.1:n.630+220T>C | |
| XM_005258206.3:c.201+220T>C | XP_005258263.1:n.201+220T>C | |
| XM_005258206.4:c.201+220T>C | XP_005258263.1:n.201+220T>C | |
| NM_004949.5:c.630+220T>C | NP_004940.1:n.630+220T>C | |
| NM_024422.6:c.630+220T>C MANE Select | NP_077740.1:n.630+220T>C |