Linked Data
ClinVar Variation Id:
1020
ClinVar RCV Id:
RCV000001075
dbSNP Id:
rs121434509
gnomAD v2:
3-9726311-G-A
gnomAD v4:
3-9684627-G-A
PubMed:
PMID:17008356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9684627G>A , CM000665.2:g.9684627G>A | GRCh38 |
| NC_000003.11:g.9726311G>A , CM000665.1:g.9726311G>A | GRCh37 |
| NC_000003.10:g.9701311G>A | NCBI36 |
| NG_017068.1:g.40195G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296003.9:c.1007G>A MANE Select | ENSP00000296003.5:p.Arg336Gln | |
| ENST00000296003.8:c.1007G>A | ENSP00000296003.4:p.Arg336Gln | |
| ENST00000351233.9:c.1007G>A | ENSP00000334070.7:p.Arg336Gln | |
| ENST00000353332.9:c.1007G>A | ENSP00000323462.8:p.Arg336Gln | |
| ENST00000414996.1:c.*364G>A | ENSP00000392935.1:n.*364G>A | |
| ENST00000420925.5:c.269G>A | ENSP00000401993.1:p.Arg90Gln | |
| ENST00000431250.1:c.323G>A | ENSP00000388746.1:p.Arg108Gln | |
| ENST00000447144.5:c.*51G>A | ENSP00000410761.1:n.*51G>A | |
| ENST00000617504.4:c.1007G>A | ENSP00000478236.1:p.Arg336Gln | |
| NM_001077525.2:c.1007G>A | NP_001070993.1:p.Arg336Gln | |
| NM_001077526.2:c.1007G>A | NP_001070994.1:p.Arg336Gln | |
| NM_022485.4:c.1007G>A | NP_071930.2:p.Arg336Gln | |
| XM_005265400.1:c.932G>A | XP_005265457.1:p.Arg311Gln | |
| XM_011534012.1:c.725G>A | XP_011532314.1:p.Arg242Gln | |
| XM_011534013.1:c.644G>A | XP_011532315.1:p.Arg215Gln | |
| XR_245152.1:n.1131G>A | ||
| XM_005265400.2:c.932G>A | XP_005265457.1:p.Arg311Gln | |
| XM_017007034.1:c.1076G>A | XP_016862523.1:p.Arg359Gln | |
| XM_017007035.1:c.1001G>A | XP_016862524.1:p.Arg334Gln | |
| XM_017007036.1:c.1076G>A | XP_016862525.1:p.Arg359Gln | |
| XM_017007037.1:c.1001G>A | XP_016862526.1:p.Arg334Gln | |
| XM_017007038.2:c.932G>A | XP_016862527.1:p.Arg311Gln | |
| XM_017007039.1:c.1076G>A | XP_016862528.1:p.Arg359Gln | |
| XM_017007040.1:c.1001G>A | XP_016862529.1:p.Arg334Gln | |
| XM_017007041.1:c.650G>A | XP_016862530.1:p.Arg217Gln | |
| XM_017007042.2:c.932G>A | XP_016862531.1:p.Arg311Gln | |
| XM_017007043.1:c.725G>A | XP_016862532.1:p.Arg242Gln | |
| XM_017007044.2:c.290G>A | XP_016862533.1:p.Arg97Gln | |
| XM_017007045.2:c.365G>A | XP_016862534.1:p.Arg122Gln | |
| XM_024453709.1:c.644G>A | XP_024309477.1:p.Arg215Gln | |
| XM_024453710.1:c.365G>A | XP_024309478.1:p.Arg122Gln | |
| XR_001740231.1:n.1327G>A | ||
| XR_001740232.1:n.1253G>A | ||
| XR_001740233.2:n.1043G>A | ||
| XR_245152.2:n.1118G>A | ||
| NM_001077525.3:c.1007G>A MANE Select | NP_001070993.1:p.Arg336Gln | |
| NM_001077526.3:c.1007G>A | NP_001070994.1:p.Arg336Gln | |
| NM_022485.5:c.1007G>A | NP_071930.2:p.Arg336Gln | |
| NM_001400518.1:c.1076G>A | NP_001387447.1:p.Arg359Gln | |
| NM_001400519.1:c.1004G>A | NP_001387448.1:p.Arg335Gln | |
| NM_001400520.1:c.932G>A | NP_001387449.1:p.Arg311Gln | |
| NM_001400521.1:c.1076G>A | NP_001387450.1:p.Arg359Gln | |
| NM_001400522.1:c.1004G>A | NP_001387451.1:p.Arg335Gln | |
| NM_001400523.1:c.932G>A | NP_001387452.1:p.Arg311Gln | |
| NM_001400524.1:c.761G>A | NP_001387453.1:p.Arg254Gln | |
| NM_001400525.1:c.725G>A | NP_001387454.1:p.Arg242Gln | |
| NM_001400526.1:c.1001G>A | NP_001387455.1:p.Arg334Gln | |
| NM_001400527.1:c.761G>A | NP_001387456.1:p.Arg254Gln | |
| NM_001400528.1:c.932G>A | NP_001387457.1:p.Arg311Gln | |
| NM_001400529.1:c.725G>A | NP_001387458.1:p.Arg242Gln | |
| NM_001400530.1:c.761G>A | NP_001387459.1:p.Arg254Gln | |
| NM_001400531.1:c.758G>A | NP_001387460.1:p.Arg253Gln | |
| NM_001400532.1:c.725G>A | NP_001387461.1:p.Arg242Gln | |
| NM_001400533.1:c.365G>A | NP_001387462.1:p.Arg122Gln | |
| NM_001400534.1:c.365G>A | NP_001387463.1:p.Arg122Gln | |
| NM_001400535.1:c.365G>A | NP_001387464.1:p.Arg122Gln | |
| NM_001400536.1:c.686G>A | NP_001387465.1:p.Arg229Gln | |
| NM_001400537.1:c.650G>A | NP_001387466.1:p.Arg217Gln | |
| NM_001400538.1:c.290G>A | NP_001387467.1:p.Arg97Gln | |
| NM_001400539.1:c.365G>A | NP_001387468.1:p.Arg122Gln | |
| NM_001400540.1:c.365G>A | NP_001387469.1:p.Arg122Gln | |
| NM_001400541.1:c.365G>A | NP_001387470.1:p.Arg122Gln | |
| NM_001400542.1:c.365G>A | NP_001387471.1:p.Arg122Gln | |
| NM_001400543.1:c.365G>A | NP_001387472.1:p.Arg122Gln | |
| NM_001400544.1:c.146G>A | NP_001387473.1:p.Arg49Gln | |
| NM_001400545.1:c.365G>A | NP_001387474.1:p.Arg122Gln | |
| NM_001400546.1:c.365G>A | NP_001387475.1:p.Arg122Gln | |
| NM_001400547.1:c.146G>A | NP_001387476.1:p.Arg49Gln | |
| NM_001400548.1:c.146G>A | NP_001387477.1:p.Arg49Gln | |
| NM_001400549.1:c.290G>A | NP_001387478.1:p.Arg97Gln | |
| NM_001400550.1:c.146G>A | NP_001387479.1:p.Arg49Gln | |
| NR_174503.1:n.1011G>A | ||
| NR_174504.1:n.1086G>A | ||
| NR_174505.1:n.694G>A | ||
| NR_174506.1:n.874G>A | ||
| NR_174507.1:n.940G>A | ||
| NR_174508.1:n.940G>A | ||
| NR_174509.1:n.840G>A | ||
| NR_174510.1:n.937G>A | ||
| NR_174511.1:n.1010G>A |