Linked Data
ClinVar Variation Id:
679
ClinVar RCV Id:
RCV000000714
dbSNP Id:
rs121918159
gnomAD v3:
2-127423319-A-C
gnomAD v4:
2-127423319-A-C
PubMed:
PMID:9683579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127423319A>C , CM000664.2:g.127423319A>C | GRCh38 |
| NC_000002.11:g.128180895A>C , CM000664.1:g.128180895A>C | GRCh37 |
| NC_000002.10:g.127897365A>C | NCBI36 |
| NG_016323.1:g.9900A>C , LRG_599:g.9900A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.446A>C MANE Select | ENSP00000234071.4:p.His149Pro | |
| ENST00000234071.7:c.446A>C | ENSP00000234071.3:p.His149Pro | |
| ENST00000402125.2:c.31A>C | ||
| ENST00000409048.1:c.548A>C | ENSP00000386679.1:p.His183Pro | |
| ENST00000442644.5:c.401-12A>C | ENSP00000411241.1:n.401-12A>C | |
| ENST00000464089.1:n.32A>C | ||
| NM_000312.3:c.446A>C , LRG_599t1:c.446A>C | NP_000303.1:p.His149Pro | |
| XM_005263715.3:c.629A>C | XP_005263772.1:p.His210Pro | |
| XM_005263716.3:c.611A>C | XP_005263773.1:p.His204Pro | |
| XM_005263717.3:c.509A>C | XP_005263774.1:p.His170Pro | |
| XM_005263717.4:c.509A>C | XP_005263774.1:p.His170Pro | |
| XM_017004505.1:c.689A>C | XP_016859994.1:p.His230Pro | |
| XM_024453002.1:c.791A>C | XP_024308770.1:p.His264Pro | |
| XM_024453003.1:c.731A>C | XP_024308771.1:p.His244Pro | |
| XM_024453004.1:c.629A>C | XP_024308772.1:p.His210Pro | |
| XM_024453005.1:c.611A>C | XP_024308773.1:p.His204Pro | |
| XM_024453006.1:c.548A>C | XP_024308774.1:p.His183Pro | |
| NM_000312.4:c.446A>C MANE Select | NP_000303.1:p.His149Pro | |
| NM_001375602.1:c.629A>C | NP_001362531.1:p.His210Pro | |
| NM_001375603.1:c.611A>C | NP_001362532.1:p.His204Pro | |
| NM_001375604.1:c.509A>C | NP_001362533.1:p.His170Pro | |
| NM_001375605.1:c.548A>C | NP_001362534.1:p.His183Pro | |
| NM_001375606.1:c.614A>C | NP_001362535.1:p.His205Pro | |
| NM_001375607.1:c.632A>C | NP_001362536.1:p.His211Pro | |
| NM_001375608.1:c.401-12A>C | NP_001362537.1:n.401-12A>C | |
| NM_001375609.1:c.422A>C | NP_001362538.1:p.His141Pro | |
| NM_001375610.1:c.440A>C | NP_001362539.1:p.His147Pro | |
| NM_001375611.1:c.446A>C | NP_001362540.1:p.His149Pro | |
| NM_001375613.1:c.446A>C | NP_001362542.1:p.His149Pro |