Linked Data
ClinVar Variation Id:
4915
dbSNP Id:
rs121908347
gnomAD v4:
10-71739772-G-C
PubMed:
PMID:11138009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71739772G>C , CM000672.2:g.71739772G>C | GRCh38 |
| NC_000010.10:g.73499529G>C , CM000672.1:g.73499529G>C | GRCh37 |
| NC_000010.9:g.73169535G>C | NCBI36 |
| NG_008835.1:g.347826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4488G>C MANE Select | ENSP00000224721.9:p.Gln1496His | |
| ENST00000224721.10:c.4503G>C | ENSP00000224721.8:p.Gln1501His | |
| ENST00000398792.3:n.1177G>C | ||
| ENST00000622827.4:c.4488G>C | ENSP00000483211.1:p.Gln1496His | |
| NM_022124.5:c.4488G>C | NP_071407.4:p.Gln1496His | |
| XM_006717940.2:c.4683G>C | XP_006718003.1:p.Gln1561His | |
| XM_006717942.2:c.4617G>C | XP_006718005.1:p.Gln1539His | |
| XM_011540039.1:c.4680G>C | XP_011538341.1:p.Gln1560His | |
| XM_011540040.1:c.4677G>C | XP_011538342.1:p.Gln1559His | |
| XM_011540041.1:c.4623G>C | XP_011538343.1:p.Gln1541His | |
| XM_011540042.1:c.4683G>C | XP_011538344.1:p.Gln1561His | |
| XM_011540043.1:c.4683G>C | XP_011538345.1:p.Gln1561His | |
| XM_011540044.1:c.4548G>C | XP_011538346.1:p.Gln1516His | |
| XM_011540045.1:c.4683G>C | XP_011538347.1:p.Gln1561His | |
| XM_011540046.1:c.4143G>C | XP_011538348.1:p.Gln1381His | |
| XM_011540047.1:c.3501G>C | XP_011538349.1:p.Gln1167His | |
| XM_011540048.1:c.4683G>C | XP_011538350.1:p.Gln1561His | |
| XM_011540049.1:c.4683G>C | XP_011538351.1:p.Gln1561His | |
| XM_011540050.1:c.4683G>C | XP_011538352.1:p.Gln1561His | |
| XM_011540051.1:c.4683G>C | XP_011538353.1:p.Gln1561His | |
| XM_011540052.1:c.1011G>C | XP_011538354.1:p.Gln337His | |
| XM_011540053.1:c.4683G>C | XP_011538355.1:p.Gln1561His | |
| XR_945796.1:n.4926G>C | ||
| NM_022124.6:c.4488G>C MANE Select | NP_071407.4:p.Gln1496His |