Linked Data
ClinVar Variation Id:
797206
ClinVar RCV Id:
RCV000980649
dbSNP Id:
rs778134085
ExAC:
17:7126074 C / T
gnomAD v2:
17-7126074-C-T
gnomAD v4:
17-7222755-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222755C>T , CM000679.2:g.7222755C>T | GRCh38 |
| NC_000017.10:g.7126074C>T , CM000679.1:g.7126074C>T | GRCh37 |
| NC_000017.9:g.7066798C>T | NCBI36 |
| NG_007975.1:g.7922C>T | |
| NG_008391.2:g.2296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.967C>T MANE Select | ENSP00000349297.5:p.Leu323= | |
| ENST00000322910.9:c.*922C>T | ENSP00000325395.5:n.*922C>T | |
| ENST00000350303.9:c.901C>T | ENSP00000344152.5:p.Leu301= | |
| ENST00000356839.9:c.967C>T | ENSP00000349297.5:p.Leu323= | |
| ENST00000543245.6:c.1036C>T | ENSP00000438689.2:p.Leu346= | |
| ENST00000578824.5:n.116C>T | ||
| ENST00000581378.5:c.685C>T | ||
| ENST00000582379.1:n.351C>T | ||
| NM_000018.3:c.967C>T | NP_000009.1:p.Leu323= | |
| NM_001033859.2:c.901C>T | NP_001029031.1:p.Leu301= | |
| NM_001270447.1:c.1036C>T | NP_001257376.1:p.Leu346= | |
| NM_001270448.1:c.739C>T | NP_001257377.1:p.Leu247= | |
| XM_006721516.2:c.967C>T | XP_006721579.2:p.Leu323= | |
| XM_011523829.1:c.967C>T | XP_011522131.1:p.Leu323= | |
| XM_011523830.1:c.967C>T | XP_011522132.1:p.Leu323= | |
| XR_934021.1:n.1074C>T | ||
| XR_934022.1:n.1074C>T | ||
| XR_934023.1:n.1074C>T | ||
| XM_006721516.3:c.967C>T | XP_006721579.2:p.Leu323= | |
| XM_011523829.2:c.967C>T | XP_011522131.1:p.Leu323= | |
| XM_011523830.2:c.967C>T | XP_011522132.1:p.Leu323= | |
| XM_024450741.1:c.967C>T | XP_024306509.1:p.Leu323= | |
| XR_934021.2:n.1026C>T | ||
| XR_934022.2:n.1026C>T | ||
| XR_934023.2:n.1026C>T | ||
| NM_000018.4:c.967C>T MANE Select | NP_000009.1:p.Leu323= | |
| NM_001033859.3:c.901C>T | NP_001029031.1:p.Leu301= | |
| NM_001270447.2:c.1036C>T | NP_001257376.1:p.Leu346= | |
| NM_001270448.2:c.739C>T | NP_001257377.1:p.Leu247= |