Linked Data
ClinVar Variation Id:
2733586
ClinVar RCV Id:
RCV003494613
dbSNP Id:
rs1179911051
gnomAD v2:
6-135611639-G-A
gnomAD v3:
6-135290501-G-A
gnomAD v4:
6-135290501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135290501G>A , CM000668.2:g.135290501G>A | GRCh38 |
| NC_000006.11:g.135611639G>A , CM000668.1:g.135611639G>A | GRCh37 |
| NC_000006.10:g.135653332G>A | NCBI36 |
| NG_008643.1:g.212265C>T | |
| NG_008643.2:g.212265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265602.11:c.3510C>T MANE Select | ENSP00000265602.6:p.Ser1170= | |
| ENST00000498558.6:n.551C>T | ||
| ENST00000527681.2:c.1179C>T | ||
| ENST00000679434.1:c.5126C>T | ENSP00000505592.1:n.5126C>T | |
| ENST00000679450.1:c.3249C>T | ENSP00000506494.1:p.Ser1083= | |
| ENST00000679490.1:n.2885C>T | ||
| ENST00000679502.1:n.2361-4854C>T | ||
| ENST00000679589.1:c.*3538C>T | ENSP00000506644.1:n.*3538C>T | |
| ENST00000679668.1:c.5042C>T | ENSP00000505364.1:n.5042C>T | |
| ENST00000679672.1:c.*1485C>T | ENSP00000505697.1:n.*1485C>T | |
| ENST00000679711.1:c.1804C>T | ||
| ENST00000679742.1:c.4896-4854C>T | ENSP00000504890.1:n.4896-4854C>T | |
| ENST00000679890.1:n.2001C>T | ||
| ENST00000679925.1:c.3486-4854C>T | ENSP00000505502.1:n.3486-4854C>T | |
| ENST00000679943.1:c.3571C>T | ENSP00000505663.1:n.3571C>T | |
| ENST00000680071.1:n.4283C>T | ||
| ENST00000680119.1:c.3735C>T | ENSP00000506403.1:n.3735C>T | |
| ENST00000680328.1:n.619C>T | ||
| ENST00000680337.1:c.944-4854C>T | ||
| ENST00000680561.1:n.6229-4854C>T | ||
| ENST00000680826.1:c.3695C>T | ENSP00000505224.1:n.3695C>T | |
| ENST00000680840.1:c.3738C>T | ENSP00000505809.1:n.3738C>T | |
| ENST00000680965.1:c.*964C>T | ENSP00000505398.1:n.*964C>T | |
| ENST00000681022.1:c.3510C>T | ENSP00000505121.1:p.Ser1170= | |
| ENST00000681057.1:n.2744-4854C>T | ||
| ENST00000681196.1:n.4259-4854C>T | ||
| ENST00000681301.1:c.3357C>T | ENSP00000505093.1:p.Ser1119= | |
| ENST00000681331.1:n.1239C>T | ||
| ENST00000681332.1:n.4027C>T | ||
| ENST00000681340.1:c.3510C>T | ENSP00000505666.1:p.Ser1170= | |
| ENST00000681365.1:c.3510C>T | ENSP00000506604.1:p.Ser1170= | |
| ENST00000681488.1:c.3379C>T | ENSP00000505884.1:n.3379C>T | |
| ENST00000681522.1:c.3510C>T | ENSP00000506005.1:p.Ser1170= | |
| ENST00000681556.1:n.3644C>T | ||
| ENST00000681718.1:c.*1997C>T | ENSP00000505266.1:n.*1997C>T | |
| ENST00000681754.1:n.4198C>T | ||
| ENST00000681828.1:c.5066C>T | ENSP00000505608.1:n.5066C>T | |
| ENST00000681841.1:c.3510C>T | ENSP00000504965.1:p.Ser1170= | |
| ENST00000681860.1:c.3326C>T | ENSP00000506250.1:n.3326C>T | |
| ENST00000265602.10:c.3510C>T | ENSP00000265602.6:p.Ser1170= | |
| ENST00000367799.6:c.1985-4854C>T | ||
| ENST00000367800.8:c.3510C>T | ENSP00000356774.4:p.Ser1170= | |
| ENST00000457866.6:c.3510C>T | ENSP00000388650.2:p.Ser1170= | |
| ENST00000475846.6:c.1940C>T | ||
| ENST00000487135.1:n.155-4854C>T | ||
| ENST00000498558.5:n.359C>T | ||
| ENST00000527681.1:c.119C>T | ||
| NM_001134830.1:c.3510C>T | NP_001128302.1:p.Ser1170= | |
| NM_001134831.1:c.3510C>T | NP_001128303.1:p.Ser1170= | |
| NM_017651.4:c.3510C>T | NP_060121.3:p.Ser1170= | |
| XM_011535910.1:c.3510C>T | XP_011534212.1:p.Ser1170= | |
| XM_011535911.1:c.3510C>T | XP_011534213.1:p.Ser1170= | |
| XM_011535914.1:c.*31C>T | XP_011534216.1:n.*31C>T | |
| XM_011535915.1:c.3486-4854C>T | XP_011534217.1:n.3486-4854C>T | |
| XR_942488.1:n.5352C>T | ||
| XR_942490.1:n.5328-4854C>T | ||
| XR_942493.1:n.5213C>T | ||
| XR_942494.1:n.5050C>T | ||
| NM_001350503.1:c.3510C>T | NP_001337432.1:p.Ser1170= | |
| NM_001350504.1:c.3486-4854C>T | NP_001337433.1:n.3486-4854C>T | |
| XM_011535910.3:c.3510C>T | XP_011534212.1:p.Ser1170= | |
| XM_011535911.3:c.3510C>T | XP_011534213.1:p.Ser1170= | |
| XM_017010980.2:c.*31C>T | XP_016866469.1:n.*31C>T | |
| XM_017010981.2:c.3456C>T | XP_016866470.1:p.Ser1152= | |
| XM_024446479.1:c.3456C>T | XP_024302247.1:p.Ser1152= | |
| XR_001743479.2:n.5449C>T | ||
| XR_001743480.2:n.4277C>T | ||
| XR_001743481.2:n.4242C>T | ||
| XR_001743482.2:n.4145C>T | ||
| XR_001743483.2:n.5425-4854C>T | ||
| XR_001743484.2:n.5310C>T | ||
| XR_001743485.2:n.4006C>T | ||
| XR_001743486.2:n.5286-4854C>T | ||
| XR_001743487.2:n.5432C>T | ||
| XR_001743488.1:n.5674C>T | ||
| XR_001743489.2:n.5147C>T | ||
| XR_001743490.2:n.4128C>T | ||
| XR_002956286.1:n.3781C>T | ||
| XR_002956287.1:n.3757-4854C>T | ||
| NM_001134831.2:c.3510C>T MANE Select | NP_001128303.1:p.Ser1170= | |
| NM_001134830.2:c.3510C>T | NP_001128302.1:p.Ser1170= | |
| NM_001350503.2:c.3510C>T | NP_001337432.1:p.Ser1170= | |
| NM_001350504.2:c.3486-4854C>T | NP_001337433.1:n.3486-4854C>T | |
| NM_017651.5:c.3510C>T | NP_060121.3:p.Ser1170= |