Linked Data
ClinVar Variation Id:
355496
dbSNP Id:
rs534053819
ExAC:
6:135611667 T / C
gnomAD v2:
6-135611667-T-C
gnomAD v3:
6-135290529-T-C
gnomAD v4:
6-135290529-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135290529T>C , CM000668.2:g.135290529T>C | GRCh38 |
| NC_000006.11:g.135611667T>C , CM000668.1:g.135611667T>C | GRCh37 |
| NC_000006.10:g.135653360T>C | NCBI36 |
| NG_008643.1:g.212237A>G | |
| NG_008643.2:g.212237A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265602.11:c.3486-4A>G MANE Select | ENSP00000265602.6:n.3486-4A>G | |
| ENST00000498558.6:n.527-4A>G | ||
| ENST00000527681.2:c.1155-4A>G | ||
| ENST00000679434.1:c.5102-4A>G | ENSP00000505592.1:n.5102-4A>G | |
| ENST00000679450.1:c.3225-4A>G | ENSP00000506494.1:n.3225-4A>G | |
| ENST00000679490.1:n.2857A>G | ||
| ENST00000679502.1:n.2361-4882A>G | ||
| ENST00000679589.1:c.*3514-4A>G | ENSP00000506644.1:n.*3514-4A>G | |
| ENST00000679668.1:c.5018-4A>G | ENSP00000505364.1:n.5018-4A>G | |
| ENST00000679672.1:c.*1461-4A>G | ENSP00000505697.1:n.*1461-4A>G | |
| ENST00000679711.1:c.1780-4A>G | ||
| ENST00000679742.1:c.4896-4882A>G | ENSP00000504890.1:n.4896-4882A>G | |
| ENST00000679890.1:n.1977-4A>G | ||
| ENST00000679925.1:c.3486-4882A>G | ENSP00000505502.1:n.3486-4882A>G | |
| ENST00000679943.1:c.3547-4A>G | ENSP00000505663.1:n.3547-4A>G | |
| ENST00000680071.1:n.4259-4A>G | ||
| ENST00000680119.1:c.3711-4A>G | ENSP00000506403.1:n.3711-4A>G | |
| ENST00000680328.1:n.595-4A>G | ||
| ENST00000680337.1:c.944-4882A>G | ||
| ENST00000680561.1:n.6229-4882A>G | ||
| ENST00000680826.1:c.3671-4A>G | ENSP00000505224.1:n.3671-4A>G | |
| ENST00000680840.1:c.3714-4A>G | ENSP00000505809.1:n.3714-4A>G | |
| ENST00000680965.1:c.*940-4A>G | ENSP00000505398.1:n.*940-4A>G | |
| ENST00000681022.1:c.3486-4A>G | ENSP00000505121.1:n.3486-4A>G | |
| ENST00000681057.1:n.2744-4882A>G | ||
| ENST00000681196.1:n.4259-4882A>G | ||
| ENST00000681301.1:c.3333-4A>G | ENSP00000505093.1:n.3333-4A>G | |
| ENST00000681331.1:n.1215-4A>G | ||
| ENST00000681332.1:n.4003-4A>G | ||
| ENST00000681340.1:c.3486-4A>G | ENSP00000505666.1:n.3486-4A>G | |
| ENST00000681365.1:c.3486-4A>G | ENSP00000506604.1:n.3486-4A>G | |
| ENST00000681488.1:c.3355-4A>G | ENSP00000505884.1:n.3355-4A>G | |
| ENST00000681522.1:c.3486-4A>G | ENSP00000506005.1:n.3486-4A>G | |
| ENST00000681556.1:n.3620-4A>G | ||
| ENST00000681718.1:c.*1973-4A>G | ENSP00000505266.1:n.*1973-4A>G | |
| ENST00000681754.1:n.4174-4A>G | ||
| ENST00000681828.1:c.5042-4A>G | ENSP00000505608.1:n.5042-4A>G | |
| ENST00000681841.1:c.3486-4A>G | ENSP00000504965.1:n.3486-4A>G | |
| ENST00000681860.1:c.3302-4A>G | ENSP00000506250.1:n.3302-4A>G | |
| ENST00000265602.10:c.3486-4A>G | ENSP00000265602.6:n.3486-4A>G | |
| ENST00000367799.6:c.1985-4882A>G | ||
| ENST00000367800.8:c.3486-4A>G | ENSP00000356774.4:n.3486-4A>G | |
| ENST00000457866.6:c.3486-4A>G | ENSP00000388650.2:n.3486-4A>G | |
| ENST00000475846.6:c.1916-4A>G | ||
| ENST00000487135.1:n.155-4882A>G | ||
| ENST00000498558.5:n.335-4A>G | ||
| ENST00000527681.1:c.95-4A>G | ||
| NM_001134830.1:c.3486-4A>G | NP_001128302.1:n.3486-4A>G | |
| NM_001134831.1:c.3486-4A>G | NP_001128303.1:n.3486-4A>G | |
| NM_017651.4:c.3486-4A>G | NP_060121.3:n.3486-4A>G | |
| XM_011535910.1:c.3486-4A>G | XP_011534212.1:n.3486-4A>G | |
| XM_011535911.1:c.3486-4A>G | XP_011534213.1:n.3486-4A>G | |
| XM_011535914.1:c.*7-4A>G | XP_011534216.1:n.*7-4A>G | |
| XM_011535915.1:c.3486-4882A>G | XP_011534217.1:n.3486-4882A>G | |
| XR_942488.1:n.5328-4A>G | ||
| XR_942490.1:n.5328-4882A>G | ||
| XR_942493.1:n.5189-4A>G | ||
| XR_942494.1:n.5026-4A>G | ||
| NM_001350503.1:c.3486-4A>G | NP_001337432.1:n.3486-4A>G | |
| NM_001350504.1:c.3486-4882A>G | NP_001337433.1:n.3486-4882A>G | |
| XM_011535910.3:c.3486-4A>G | XP_011534212.1:n.3486-4A>G | |
| XM_011535911.3:c.3486-4A>G | XP_011534213.1:n.3486-4A>G | |
| XM_017010980.2:c.*7-4A>G | XP_016866469.1:n.*7-4A>G | |
| XM_017010981.2:c.3432-4A>G | XP_016866470.1:n.3432-4A>G | |
| XM_024446479.1:c.3432-4A>G | XP_024302247.1:n.3432-4A>G | |
| XR_001743479.2:n.5425-4A>G | ||
| XR_001743480.2:n.4253-4A>G | ||
| XR_001743481.2:n.4218-4A>G | ||
| XR_001743482.2:n.4121-4A>G | ||
| XR_001743483.2:n.5425-4882A>G | ||
| XR_001743484.2:n.5286-4A>G | ||
| XR_001743485.2:n.3982-4A>G | ||
| XR_001743486.2:n.5286-4882A>G | ||
| XR_001743487.2:n.5408-4A>G | ||
| XR_001743488.1:n.5650-4A>G | ||
| XR_001743489.2:n.5123-4A>G | ||
| XR_001743490.2:n.4104-4A>G | ||
| XR_002956286.1:n.3757-4A>G | ||
| XR_002956287.1:n.3757-4882A>G | ||
| NM_001134831.2:c.3486-4A>G MANE Select | NP_001128303.1:n.3486-4A>G | |
| NM_001134830.2:c.3486-4A>G | NP_001128302.1:n.3486-4A>G | |
| NM_001350503.2:c.3486-4A>G | NP_001337432.1:n.3486-4A>G | |
| NM_001350504.2:c.3486-4882A>G | NP_001337433.1:n.3486-4882A>G | |
| NM_017651.5:c.3486-4A>G | NP_060121.3:n.3486-4A>G |