Linked Data
ClinVar Variation Id:
9498
ClinVar RCV Id:
RCV000010106
dbSNP Id:
rs28937314
gnomAD v4:
9-104822521-T-G
PubMed:
PMID:12111381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104822521T>G , CM000671.2:g.104822521T>G | GRCh38 |
| NC_000009.11:g.107584802T>G , CM000671.1:g.107584802T>G | GRCh37 |
| NC_000009.10:g.106624623T>G | NCBI36 |
| NG_007981.1:g.110635A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.2803A>C MANE Select | ENSP00000363868.3:p.Asn935His | |
| ENST00000678995.1:c.2803A>C | ENSP00000504612.1:p.Asn935His | |
| ENST00000374736.7:c.2803A>C | ENSP00000363868.3:p.Asn935His | |
| NM_005502.3:c.2803A>C | NP_005493.2:p.Asn935His | |
| XM_005251773.1:c.2803A>C | XP_005251830.1:p.Asn935His | |
| XM_005251776.1:c.2623A>C | XP_005251833.1:p.Asn875His | |
| XM_011518339.1:c.2878A>C | XP_011516641.1:p.Asn960His | |
| XM_011518340.1:c.2878A>C | XP_011516642.1:p.Asn960His | |
| XM_011518341.1:c.2878A>C | XP_011516643.1:p.Asn960His | |
| XM_011518342.1:c.2440A>C | XP_011516644.1:p.Asn814His | |
| XM_011518343.1:c.2878A>C | XP_011516645.1:p.Asn960His | |
| XM_011518344.1:c.2878A>C | XP_011516646.1:p.Asn960His | |
| XM_005251773.3:c.2803A>C | XP_005251830.1:p.Asn935His | |
| XM_005251776.3:c.2623A>C | XP_005251833.1:p.Asn875His | |
| XM_011518339.3:c.2878A>C | XP_011516641.1:p.Asn960His | |
| XM_011518340.3:c.2878A>C | XP_011516642.1:p.Asn960His | |
| XM_011518341.3:c.2878A>C | XP_011516643.1:p.Asn960His | |
| XM_011518342.3:c.2440A>C | XP_011516644.1:p.Asn814His | |
| XM_011518344.2:c.2878A>C | XP_011516646.1:p.Asn960His | |
| XM_017014378.2:c.2878A>C | XP_016869867.1:p.Asn960His | |
| XM_017014379.2:c.2878A>C | XP_016869868.1:p.Asn960His | |
| XM_017014380.2:c.2878A>C | XP_016869869.1:p.Asn960His | |
| XM_017014381.2:c.2878A>C | XP_016869870.1:p.Asn960His | |
| XM_017014382.2:c.2740A>C | XP_016869871.1:p.Asn914His | |
| XR_001746223.1:n.3191A>C | ||
| NM_005502.4:c.2803A>C MANE Select | NP_005493.2:p.Asn935His |