Linked Data
ClinVar Variation Id:
336164
dbSNP Id:
rs199628926
gnomAD v2:
2-44200741-C-T
gnomAD v3:
2-43973602-C-T
gnomAD v4:
2-43973602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43973602C>T , CM000664.2:g.43973602C>T | GRCh38 |
| NC_000002.11:g.44200741C>T , CM000664.1:g.44200741C>T | GRCh37 |
| NC_000002.10:g.44054245C>T | NCBI36 |
| NG_008247.1:g.27404G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409659.6:c.1369+5G>A | ENSP00000386562.2:n.1369+5G>A | |
| ENST00000409946.6:c.1369+5G>A | ENSP00000386234.1:n.1369+5G>A | |
| ENST00000447246.2:c.1369+5G>A | ENSP00000403637.2:n.1369+5G>A | |
| ENST00000681959.1:n.983+5G>A | ||
| ENST00000681961.1:n.1389+5G>A | ||
| ENST00000682104.1:c.1243+5G>A | ENSP00000507716.1:n.1243+5G>A | |
| ENST00000682303.1:c.*1241+5G>A | ENSP00000508325.1:n.*1241+5G>A | |
| ENST00000682308.1:c.1369+5G>A | ENSP00000507056.1:n.1369+5G>A | |
| ENST00000682480.1:c.1369+5G>A | ENSP00000508344.1:n.1369+5G>A | |
| ENST00000682546.1:c.1369+5G>A | ENSP00000508188.1:n.1369+5G>A | |
| ENST00000682585.1:c.1369+5G>A | ENSP00000506885.1:n.1369+5G>A | |
| ENST00000682595.1:n.1951+5G>A | ||
| ENST00000682779.1:c.1360+5G>A | ENSP00000507947.1:n.1360+5G>A | |
| ENST00000682885.1:c.1369+5G>A | ENSP00000508036.1:n.1369+5G>A | |
| ENST00000682999.1:n.1991G>A | ||
| ENST00000683072.1:n.1951+5G>A | ||
| ENST00000683082.1:n.1387+5G>A | ||
| ENST00000683125.1:c.1369+5G>A | ENSP00000507939.1:n.1369+5G>A | |
| ENST00000683213.1:c.1372+5G>A | ENSP00000507751.1:n.1372+5G>A | |
| ENST00000683220.1:c.1369+5G>A | ENSP00000507151.1:n.1369+5G>A | |
| ENST00000683329.1:n.2172+5G>A | ||
| ENST00000683346.1:c.*1244+5G>A | ENSP00000507458.1:n.*1244+5G>A | |
| ENST00000683459.1:n.1956+5G>A | ||
| ENST00000683590.1:c.1369+5G>A | ENSP00000506820.1:n.1369+5G>A | |
| ENST00000683623.1:c.1369+5G>A | ENSP00000507702.1:n.1369+5G>A | |
| ENST00000683694.1:n.120+5G>A | ||
| ENST00000683796.1:c.*1241+5G>A | ENSP00000508221.1:n.*1241+5G>A | |
| ENST00000683802.1:n.1205+5G>A | ||
| ENST00000683833.1:c.1360+5G>A | ENSP00000506852.1:n.1360+5G>A | |
| ENST00000683934.1:c.1023+5G>A | ||
| ENST00000683989.1:c.1369+5G>A | ENSP00000507510.1:n.1369+5G>A | |
| ENST00000683994.1:c.1369+5G>A | ENSP00000507181.1:n.1369+5G>A | |
| ENST00000684290.1:c.1369+5G>A | ENSP00000507243.1:n.1369+5G>A | |
| ENST00000684306.1:c.*1282+5G>A | ENSP00000508384.1:n.*1282+5G>A | |
| ENST00000684341.1:n.1389+5G>A | ||
| ENST00000684383.1:c.*1007+5G>A | ENSP00000506863.1:n.*1007+5G>A | |
| ENST00000684482.1:c.1023+5G>A | ||
| ENST00000684619.1:c.*1241+5G>A | ENSP00000508088.1:n.*1241+5G>A | |
| ENST00000260665.12:c.1369+5G>A MANE Select | ENSP00000260665.7:n.1369+5G>A | |
| ENST00000260665.11:c.1369+5G>A | ENSP00000260665.7:n.1369+5G>A | |
| ENST00000409659.5:c.1369+5G>A | ENSP00000386562.1:n.1369+5G>A | |
| ENST00000409946.5:c.1369+5G>A | ENSP00000386234.1:n.1369+5G>A | |
| NM_133259.3:c.1369+5G>A | NP_573566.2:n.1369+5G>A | |
| XM_006711915.2:c.1291+5G>A | XP_006711978.1:n.1291+5G>A | |
| XM_006711916.2:c.1369+5G>A | XP_006711979.1:n.1369+5G>A | |
| XM_011532473.1:c.1369+5G>A | XP_011530775.1:n.1369+5G>A | |
| XM_011532474.1:c.1369+5G>A | XP_011530776.1:n.1369+5G>A | |
| XM_006711916.3:c.1369+5G>A | XP_006711979.1:n.1369+5G>A | |
| XM_017003117.1:c.1291+5G>A | XP_016858606.1:n.1291+5G>A | |
| XR_002958896.1:n.1411+5G>A | ||
| NM_133259.4:c.1369+5G>A MANE Select | NP_573566.2:n.1369+5G>A |