Linked Data
ClinVar Variation Id:
162663
ClinVar RCV Id:
RCV000150100
RCV000413263
RCV000703555
RCV001195381
RCV003147344
RCV003422039
RCV003993828
dbSNP Id:
rs143137713
ExAC:
3:148714249 G / C
gnomAD v2:
3-148714249-G-C
gnomAD v3:
3-148996462-G-C
gnomAD v4:
3-148996462-G-C
COSMIC:
COSM3736309
PubMed:
PMID:25272951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148996462G>C , CM000665.2:g.148996462G>C | GRCh38 |
| NC_000003.11:g.148714249G>C , CM000665.1:g.148714249G>C | GRCh37 |
| NC_000003.10:g.150196939G>C | NCBI36 |
| NG_027677.1:g.10055G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345003.9:c.304G>C MANE Select | ENSP00000340736.4:p.Asp102His | |
| ENST00000296048.10:c.304G>C | ENSP00000296048.6:p.Asp102His | |
| ENST00000345003.8:c.304G>C | ENSP00000340736.4:p.Asp102His | |
| ENST00000461191.1:c.304G>C | ENSP00000420247.1:p.Asp102His | |
| ENST00000465547.1:n.197G>C | ||
| ENST00000473005.1:c.166G>C | ENSP00000417671.1:p.Asp56His | |
| ENST00000478067.1:n.370+35G>C | ||
| ENST00000483267.5:c.304G>C | ENSP00000419499.1:p.Asp102His | |
| ENST00000484197.5:c.304G>C | ENSP00000420683.1:p.Asp102His | |
| ENST00000492285.6:c.166G>C | ENSP00000418297.2:p.Asp56His | |
| ENST00000627418.2:c.304G>C | ENSP00000486061.1:p.Asp102His | |
| NM_001184720.1:c.304G>C | NP_001171649.1:p.Asp102His | |
| NM_001184721.1:c.304G>C | NP_001171650.1:p.Asp102His | |
| NM_004130.3:c.304G>C | NP_004121.2:p.Asp102His | |
| XM_017006275.1:c.127G>C | XP_016861764.1:p.Asp43His | |
| NM_004130.4:c.304G>C MANE Select | NP_004121.2:p.Asp102His | |
| NM_001184720.2:c.304G>C | NP_001171649.1:p.Asp102His | |
| NM_001184721.2:c.304G>C | NP_001171650.1:p.Asp102His |