Linked Data
ClinVar Variation Id:
10333
ClinVar RCV Id:
RCV000011046
dbSNP Id:
rs137852473
gnomAD v2:
X-154065961-G-A
gnomAD v3:
X-154837686-G-A
gnomAD v4:
X-154837686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837686G>A , CM000685.2:g.154837686G>A | GRCh38 |
| NC_000023.10:g.154065961G>A , CM000685.1:g.154065961G>A | GRCh37 |
| NC_000023.9:g.153719155G>A | NCBI36 |
| NG_011403.1:g.190038C>T | |
| NG_033065.1:g.1977C>T | |
| NG_011403.2:g.190038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6967C>T MANE Select | ENSP00000353393.4:p.Arg2323Cys | |
| ENST00000644698.1:c.700C>T | ENSP00000495706.1:p.Arg234Cys | |
| ENST00000330287.10:c.562C>T | ENSP00000327895.6:p.Arg188Cys | |
| ENST00000360256.8:c.6967C>T | ENSP00000353393.4:p.Arg2323Cys | |
| NM_000132.3:c.6967C>T | NP_000123.1:p.Arg2323Cys | |
| NM_019863.2:c.562C>T | NP_063916.1:p.Arg188Cys | |
| XM_011531126.1:c.6862C>T | XP_011529428.1:p.Arg2288Cys | |
| NM_000132.4:c.6967C>T MANE Select | NP_000123.1:p.Arg2323Cys | |
| NM_019863.3:c.562C>T | NP_063916.1:p.Arg188Cys |