Linked Data
ClinVar Variation Id:
355517
ClinVar RCV Id:
RCV000329017
dbSNP Id:
rs533416517
ExAC:
6:135818890 G / C
gnomAD v2:
6-135818890-G-C
gnomAD v3:
6-135497752-G-C
gnomAD v4:
6-135497752-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135497752G>C , CM000668.2:g.135497752G>C | GRCh38 |
| NC_000006.11:g.135818890G>C , CM000668.1:g.135818890G>C | GRCh37 |
| NC_000006.10:g.135860583G>C | NCBI36 |
| NG_008643.1:g.5014C>G | |
| NG_008643.2:g.5014C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679589.1:c.-371C>G | ENSP00000506644.1:n.-371C>G | |
| ENST00000680033.1:c.-2268C>G | ENSP00000506426.1:n.-2268C>G | |
| ENST00000681022.1:c.-2268C>G | ENSP00000505121.1:n.-2268C>G | |
| ENST00000681340.1:c.-457C>G | ENSP00000505666.1:n.-457C>G | |
| ENST00000681841.1:c.-480C>G | ENSP00000504965.1:n.-480C>G | |
| ENST00000265602.10:c.-371C>G | ENSP00000265602.6:n.-371C>G | |
| ENST00000457866.6:c.-286C>G | ENSP00000388650.2:n.-286C>G | |
| NM_001134830.1:c.-224C>G | NP_001128302.1:n.-224C>G | |
| NM_001134831.1:c.-371C>G | NP_001128303.1:n.-371C>G | |
| NM_001134832.1:c.-286C>G | NP_001128304.1:n.-286C>G | |
| NM_017651.4:c.-286C>G | NP_060121.3:n.-286C>G | |
| XM_011535912.1:c.-286C>G | XP_011534214.1:n.-286C>G | |
| XM_011535913.1:c.-286C>G | XP_011534215.1:n.-286C>G | |
| XM_011535914.1:c.-286C>G | XP_011534216.1:n.-286C>G | |
| XM_011535915.1:c.-286C>G | XP_011534217.1:n.-286C>G | |
| XM_011535916.1:c.-286C>G | XP_011534218.1:n.-286C>G | |
| XR_942488.1:n.8C>G | ||
| XR_942489.1:n.8C>G | ||
| XR_942490.1:n.8C>G | ||
| XR_942491.1:n.8C>G | ||
| XR_942493.1:n.8C>G | ||
| XR_942494.1:n.8C>G | ||
| XR_942495.1:n.8C>G | ||
| NM_001350503.1:c.-480C>G | NP_001337432.1:n.-480C>G | |
| NM_001350504.1:c.-371C>G | NP_001337433.1:n.-371C>G | |
| XM_011535910.3:c.-542C>G | XP_011534212.1:n.-542C>G | |
| XM_017010978.2:c.-371C>G | XP_016866467.1:n.-371C>G | |
| XM_017010979.2:c.-371C>G | XP_016866468.1:n.-371C>G | |
| XM_017010980.2:c.-371C>G | XP_016866469.1:n.-371C>G | |
| XM_017010981.2:c.-371C>G | XP_016866470.1:n.-371C>G | |
| XM_017010984.2:c.-371C>G | XP_016866473.1:n.-371C>G | |
| XM_024446479.1:c.-286C>G | XP_024302247.1:n.-286C>G | |
| XM_024446480.1:c.-371C>G | XP_024302248.1:n.-371C>G | |
| XR_001743479.2:n.20C>G | ||
| XR_001743480.2:n.20C>G | ||
| XR_001743481.2:n.20C>G | ||
| XR_001743482.2:n.20C>G | ||
| XR_001743483.2:n.20C>G | ||
| XR_001743484.2:n.20C>G | ||
| XR_001743485.2:n.20C>G | ||
| XR_001743486.2:n.20C>G | ||
| XR_001743487.2:n.20C>G | ||
| XR_001743489.2:n.20C>G | ||
| XR_001743490.2:n.20C>G | ||
| XR_002956286.1:n.20C>G | ||
| XR_002956287.1:n.20C>G |