Linked Data
ClinVar Variation Id:
10409
ClinVar RCV Id:
RCV000011152
dbSNP Id:
rs137852344
ExAC:
X:153760460 G / C
gnomAD v2:
X-153760460-G-C
gnomAD v4:
X-154532245-G-C
PubMed:
PMID:9233561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532245G>C , CM000685.2:g.154532245G>C | GRCh38 |
| NC_000023.10:g.153760460G>C , CM000685.1:g.153760460G>C | GRCh37 |
| NC_000023.9:g.153413654G>C | NCBI36 |
| NG_009015.2:g.20328C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.1400C>G | ENSP00000377194.2:p.Pro467Arg | |
| ENST00000439227.6:c.1403C>G | ENSP00000395599.2:p.Pro468Arg | |
| ENST00000696420.1:c.1400C>G | ENSP00000512615.1:p.Pro467Arg | |
| ENST00000696421.1:c.1400C>G | ENSP00000512616.1:p.Pro467Arg | |
| ENST00000696422.1:c.1263C>G | ||
| ENST00000696423.1:c.1266C>G | ||
| ENST00000696424.1:c.1252C>G | ENSP00000512619.1:n.1252C>G | |
| ENST00000696425.1:c.*313C>G | ENSP00000512620.1:n.*313C>G | |
| ENST00000696426.1:c.*860C>G | ENSP00000512621.1:n.*860C>G | |
| ENST00000696427.1:c.*360C>G | ENSP00000512622.1:n.*360C>G | |
| ENST00000696428.1:c.*1242C>G | ENSP00000512623.1:n.*1242C>G | |
| ENST00000696429.1:c.1400C>G | ENSP00000512624.1:p.Pro467Arg | |
| ENST00000696430.1:c.1400C>G | ENSP00000512625.1:p.Pro467Arg | |
| ENST00000393562.10:c.1400C>G MANE Select | ENSP00000377192.3:p.Pro467Arg | |
| ENST00000369620.6:c.1538C>G | ENSP00000358633.2:p.Pro513Arg | |
| ENST00000393562.6:c.1490C>G | ENSP00000377192.2:p.Pro497Arg | |
| ENST00000393564.6:c.1400C>G | ENSP00000377194.2:p.Pro467Arg | |
| ENST00000490651.1:n.621C>G | ||
| ENST00000621232.4:c.1400C>G | ENSP00000483686.1:p.Pro467Arg | |
| NM_000402.4:c.1490C>G | NP_000393.4:p.Pro497Arg | |
| NM_001042351.2:c.1400C>G | NP_001035810.1:p.Pro467Arg | |
| XM_005274657.2:c.1493C>G | XP_005274714.1:p.Pro498Arg | |
| XM_005274658.2:c.1403C>G | XP_005274715.1:p.Pro468Arg | |
| NM_001360016.2:c.1400C>G MANE Select | NP_001346945.1:p.Pro467Arg | |
| NM_001042351.3:c.1400C>G | NP_001035810.1:p.Pro467Arg |