Linked Data
ClinVar Variation Id:
324990
ClinVar RCV Id:
RCV000338520
dbSNP Id:
rs749734276
ExAC:
17:7126076 G / A
gnomAD v2:
17-7126076-G-A
gnomAD v4:
17-7222757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222757G>A , CM000679.2:g.7222757G>A | GRCh38 |
| NC_000017.10:g.7126076G>A , CM000679.1:g.7126076G>A | GRCh37 |
| NC_000017.9:g.7066800G>A | NCBI36 |
| NG_007975.1:g.7924G>A | |
| NG_008391.2:g.2294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.969G>A MANE Select | ENSP00000349297.5:p.Leu323= | |
| ENST00000322910.9:c.*924G>A | ENSP00000325395.5:n.*924G>A | |
| ENST00000350303.9:c.903G>A | ENSP00000344152.5:p.Leu301= | |
| ENST00000356839.9:c.969G>A | ENSP00000349297.5:p.Leu323= | |
| ENST00000543245.6:c.1038G>A | ENSP00000438689.2:p.Leu346= | |
| ENST00000578824.5:n.118G>A | ||
| ENST00000581378.5:c.687G>A | ||
| ENST00000582379.1:n.353G>A | ||
| NM_000018.3:c.969G>A | NP_000009.1:p.Leu323= | |
| NM_001033859.2:c.903G>A | NP_001029031.1:p.Leu301= | |
| NM_001270447.1:c.1038G>A | NP_001257376.1:p.Leu346= | |
| NM_001270448.1:c.741G>A | NP_001257377.1:p.Leu247= | |
| XM_006721516.2:c.969G>A | XP_006721579.2:p.Leu323= | |
| XM_011523829.1:c.969G>A | XP_011522131.1:p.Leu323= | |
| XM_011523830.1:c.969G>A | XP_011522132.1:p.Leu323= | |
| XR_934021.1:n.1076G>A | ||
| XR_934022.1:n.1076G>A | ||
| XR_934023.1:n.1076G>A | ||
| XM_006721516.3:c.969G>A | XP_006721579.2:p.Leu323= | |
| XM_011523829.2:c.969G>A | XP_011522131.1:p.Leu323= | |
| XM_011523830.2:c.969G>A | XP_011522132.1:p.Leu323= | |
| XM_024450741.1:c.969G>A | XP_024306509.1:p.Leu323= | |
| XR_934021.2:n.1028G>A | ||
| XR_934022.2:n.1028G>A | ||
| XR_934023.2:n.1028G>A | ||
| NM_000018.4:c.969G>A MANE Select | NP_000009.1:p.Leu323= | |
| NM_001033859.3:c.903G>A | NP_001029031.1:p.Leu301= | |
| NM_001270447.2:c.1038G>A | NP_001257376.1:p.Leu346= | |
| NM_001270448.2:c.741G>A | NP_001257377.1:p.Leu247= |