Linked Data
ClinVar Variation Id:
958165
dbSNP Id:
rs1557229572
gnomAD v2:
X-153760618-C-G
gnomAD v4:
X-154532403-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532403C>G , CM000685.2:g.154532403C>G | GRCh38 |
| NC_000023.10:g.153760618C>G , CM000685.1:g.153760618C>G | GRCh37 |
| NC_000023.9:g.153413812C>G | NCBI36 |
| NG_009015.2:g.20170G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.1347G>C | ENSP00000377194.2:p.Gln449His | |
| ENST00000439227.6:c.1350G>C | ENSP00000395599.2:p.Gln450His | |
| ENST00000696420.1:c.1347G>C | ENSP00000512615.1:p.Gln449His | |
| ENST00000696421.1:c.1347G>C | ENSP00000512616.1:p.Gln449His | |
| ENST00000696422.1:c.1210G>C | ||
| ENST00000696423.1:c.1213G>C | ||
| ENST00000696424.1:c.1199G>C | ENSP00000512619.1:n.1199G>C | |
| ENST00000696425.1:c.*260G>C | ENSP00000512620.1:n.*260G>C | |
| ENST00000696426.1:c.*807G>C | ENSP00000512621.1:n.*807G>C | |
| ENST00000696427.1:c.*307G>C | ENSP00000512622.1:n.*307G>C | |
| ENST00000696428.1:c.*1189G>C | ENSP00000512623.1:n.*1189G>C | |
| ENST00000696429.1:c.1347G>C | ENSP00000512624.1:p.Gln449His | |
| ENST00000696430.1:c.1347G>C | ENSP00000512625.1:p.Gln449His | |
| ENST00000393562.10:c.1347G>C MANE Select | ENSP00000377192.3:p.Gln449His | |
| ENST00000369620.6:c.1485G>C | ENSP00000358633.2:p.Gln495His | |
| ENST00000393562.6:c.1437G>C | ENSP00000377192.2:p.Gln479His | |
| ENST00000393564.6:c.1347G>C | ENSP00000377194.2:p.Gln449His | |
| ENST00000490651.1:n.568G>C | ||
| ENST00000621232.4:c.1347G>C | ENSP00000483686.1:p.Gln449His | |
| NM_000402.4:c.1437G>C | NP_000393.4:p.Gln479His | |
| NM_001042351.2:c.1347G>C | NP_001035810.1:p.Gln449His | |
| XM_005274657.2:c.1440G>C | XP_005274714.1:p.Gln480His | |
| XM_005274658.2:c.1350G>C | XP_005274715.1:p.Gln450His | |
| NM_001360016.2:c.1347G>C MANE Select | NP_001346945.1:p.Gln449His | |
| NM_001042351.3:c.1347G>C | NP_001035810.1:p.Gln449His |