Linked Data
ClinVar Variation Id:
3110
dbSNP Id:
rs119466000
ExAC:
2:44201383 G / A
gnomAD v2:
2-44201383-G-A
gnomAD v3:
2-43974244-G-A
gnomAD v4:
2-43974244-G-A
COSMIC:
COSM3185160
PubMed:
PMID:12529507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43974244G>A , CM000664.2:g.43974244G>A | GRCh38 |
| NC_000002.11:g.44201383G>A , CM000664.1:g.44201383G>A | GRCh37 |
| NC_000002.10:g.44054887G>A | NCBI36 |
| NG_008247.1:g.26762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.1061C>T | ENSP00000386562.2:p.Ala354Val | |
| ENST00000409946.6:c.1061C>T | ENSP00000386234.1:p.Ala354Val | |
| ENST00000447246.2:c.1061C>T | ENSP00000403637.2:p.Ala354Val | |
| ENST00000681959.1:n.675C>T | ||
| ENST00000681961.1:n.1081C>T | ||
| ENST00000682104.1:c.935C>T | ENSP00000507716.1:p.Ala312Val | |
| ENST00000682303.1:c.*933C>T | ENSP00000508325.1:n.*933C>T | |
| ENST00000682308.1:c.1061C>T | ENSP00000507056.1:p.Ala354Val | |
| ENST00000682480.1:c.1061C>T | ENSP00000508344.1:p.Ala354Val | |
| ENST00000682546.1:c.1061C>T | ENSP00000508188.1:p.Ala354Val | |
| ENST00000682585.1:c.1061C>T | ENSP00000506885.1:p.Ala354Val | |
| ENST00000682595.1:n.1394C>T | ||
| ENST00000682779.1:c.1052C>T | ENSP00000507947.1:p.Ala351Val | |
| ENST00000682885.1:c.1061C>T | ENSP00000508036.1:p.Ala354Val | |
| ENST00000682999.1:n.1429C>T | ||
| ENST00000683072.1:n.1394C>T | ||
| ENST00000683082.1:n.1079C>T | ||
| ENST00000683125.1:c.1061C>T | ENSP00000507939.1:p.Ala354Val | |
| ENST00000683213.1:c.1064C>T | ENSP00000507751.1:p.Ala355Val | |
| ENST00000683220.1:c.1061C>T | ENSP00000507151.1:p.Ala354Val | |
| ENST00000683329.1:n.1864C>T | ||
| ENST00000683346.1:c.*936C>T | ENSP00000507458.1:n.*936C>T | |
| ENST00000683459.1:n.1399C>T | ||
| ENST00000683590.1:c.1061C>T | ENSP00000506820.1:p.Ala354Val | |
| ENST00000683623.1:c.1061C>T | ENSP00000507702.1:p.Ala354Val | |
| ENST00000683796.1:c.*933C>T | ENSP00000508221.1:n.*933C>T | |
| ENST00000683802.1:n.897C>T | ||
| ENST00000683833.1:c.1052C>T | ENSP00000506852.1:p.Ala351Val | |
| ENST00000683934.1:c.715C>T | ||
| ENST00000683989.1:c.1061C>T | ENSP00000507510.1:p.Ala354Val | |
| ENST00000683994.1:c.1061C>T | ENSP00000507181.1:p.Ala354Val | |
| ENST00000684290.1:c.1061C>T | ENSP00000507243.1:p.Ala354Val | |
| ENST00000684306.1:c.*974C>T | ENSP00000508384.1:n.*974C>T | |
| ENST00000684341.1:n.1081C>T | ||
| ENST00000684383.1:c.*699C>T | ENSP00000506863.1:n.*699C>T | |
| ENST00000684482.1:c.715C>T | ||
| ENST00000684619.1:c.*933C>T | ENSP00000508088.1:n.*933C>T | |
| ENST00000260665.12:c.1061C>T MANE Select | ENSP00000260665.7:p.Ala354Val | |
| ENST00000260665.11:c.1061C>T | ENSP00000260665.7:p.Ala354Val | |
| ENST00000409659.5:c.1061C>T | ENSP00000386562.1:p.Ala354Val | |
| ENST00000409946.5:c.1061C>T | ENSP00000386234.1:p.Ala354Val | |
| ENST00000447246.1:c.983C>T | ENSP00000403637.1:p.Ala328Val | |
| NM_133259.3:c.1061C>T | NP_573566.2:p.Ala354Val | |
| XM_006711915.2:c.983C>T | XP_006711978.1:p.Ala328Val | |
| XM_006711916.2:c.1061C>T | XP_006711979.1:p.Ala354Val | |
| XM_011532473.1:c.1061C>T | XP_011530775.1:p.Ala354Val | |
| XM_011532474.1:c.1061C>T | XP_011530776.1:p.Ala354Val | |
| XM_006711916.3:c.1061C>T | XP_006711979.1:p.Ala354Val | |
| XM_017003117.1:c.983C>T | XP_016858606.1:p.Ala328Val | |
| XR_002958896.1:n.1103C>T | ||
| NM_133259.4:c.1061C>T MANE Select | NP_573566.2:p.Ala354Val |