Linked Data
ClinVar Variation Id:
72377
dbSNP Id:
rs142331975
gnomAD v2:
18-28669425-G-A
gnomAD v4:
18-31089462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31089462G>A , CM000680.2:g.31089462G>A | GRCh38 |
| NC_000018.9:g.28669425G>A , CM000680.1:g.28669425G>A | GRCh37 |
| NC_000018.8:g.26923423G>A | NCBI36 |
| NG_008208.2:g.17964C>T , LRG_400:g.17964C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682357.1:c.178C>T | ENSP00000507826.1:p.Arg60Cys | |
| ENST00000251081.8:c.607C>T | ENSP00000251081.6:p.Arg203Cys | |
| ENST00000280904.11:c.607C>T MANE Select | ENSP00000280904.6:p.Arg203Cys | |
| ENST00000648081.1:c.178C>T | ENSP00000497441.1:p.Arg60Cys | |
| ENST00000251081.6:c.607C>T | ENSP00000251081.6:p.Arg203Cys | |
| ENST00000280904.10:c.607C>T | ENSP00000280904.6:p.Arg203Cys | |
| NM_004949.4:c.607C>T | NP_004940.1:p.Arg203Cys | |
| NM_024422.4:c.607C>T | NP_077740.1:p.Arg203Cys | |
| XM_005258206.3:c.178C>T | XP_005258263.1:p.Arg60Cys | |
| XM_005258206.4:c.178C>T | XP_005258263.1:p.Arg60Cys | |
| NM_004949.5:c.607C>T | NP_004940.1:p.Arg203Cys | |
| NM_024422.6:c.607C>T MANE Select | NP_077740.1:p.Arg203Cys |