Linked Data
dbSNP Id:
rs756316782
ExAC:
2:44132957 T / A
gnomAD v2:
2-44132957-T-A
gnomAD v3:
2-43905818-T-A
gnomAD v4:
2-43905818-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905818T>A , CM000664.2:g.43905818T>A | GRCh38 |
| NC_000002.11:g.44132957T>A , CM000664.1:g.44132957T>A | GRCh37 |
| NC_000002.10:g.43986461T>A | NCBI36 |
| NG_008247.1:g.95188A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.355-38A>T | ||
| ENST00000681993.1:n.828-38A>T | ||
| ENST00000682295.1:c.431-38A>T | ENSP00000507499.1:n.431-38A>T | |
| ENST00000682303.1:c.*3062-38A>T | ENSP00000508325.1:n.*3062-38A>T | |
| ENST00000682308.1:c.3276-38A>T | ENSP00000507056.1:n.3276-38A>T | |
| ENST00000682480.1:c.3294-38A>T | ENSP00000508344.1:n.3294-38A>T | |
| ENST00000682546.1:c.3273-38A>T | ENSP00000508188.1:n.3273-38A>T | |
| ENST00000682585.1:c.3276-38A>T | ENSP00000506885.1:n.3276-38A>T | |
| ENST00000682595.1:n.3860-38A>T | ||
| ENST00000682607.1:c.1694-38A>T | ||
| ENST00000682612.1:c.128-38A>T | ||
| ENST00000682779.1:c.3267-38A>T | ENSP00000507947.1:n.3267-38A>T | |
| ENST00000682845.1:n.2378-38A>T | ||
| ENST00000682885.1:c.3231-38A>T | ENSP00000508036.1:n.3231-38A>T | |
| ENST00000682933.1:n.3350-38A>T | ||
| ENST00000683002.1:c.128-38A>T | ||
| ENST00000683072.1:n.3860-38A>T | ||
| ENST00000683080.1:n.895-38A>T | ||
| ENST00000683125.1:c.3384-38A>T | ENSP00000507939.1:n.3384-38A>T | |
| ENST00000683213.1:c.3279-38A>T | ENSP00000507751.1:n.3279-38A>T | |
| ENST00000683220.1:c.3306-38A>T | ENSP00000507151.1:n.3306-38A>T | |
| ENST00000683329.1:n.4079-38A>T | ||
| ENST00000683346.1:c.*3151-38A>T | ENSP00000507458.1:n.*3151-38A>T | |
| ENST00000683409.1:n.1883-38A>T | ||
| ENST00000683459.1:n.3863-38A>T | ||
| ENST00000683528.1:c.128-38A>T | ||
| ENST00000683590.1:c.3024-38A>T | ENSP00000506820.1:n.3024-38A>T | |
| ENST00000683623.1:c.3183-38A>T | ENSP00000507702.1:n.3183-38A>T | |
| ENST00000683645.1:n.3827-38A>T | ||
| ENST00000683796.1:c.*3148-38A>T | ENSP00000508221.1:n.*3148-38A>T | |
| ENST00000683802.1:n.6201-38A>T | ||
| ENST00000683833.1:c.3267-38A>T | ENSP00000506852.1:n.3267-38A>T | |
| ENST00000683994.1:c.3276-38A>T | ENSP00000507181.1:n.3276-38A>T | |
| ENST00000684290.1:c.*812-38A>T | ENSP00000507243.1:n.*812-38A>T | |
| ENST00000684306.1:c.*3189-38A>T | ENSP00000508384.1:n.*3189-38A>T | |
| ENST00000684341.1:n.3296-38A>T | ||
| ENST00000684383.1:c.*2914-38A>T | ENSP00000506863.1:n.*2914-38A>T | |
| ENST00000684418.1:n.4457-38A>T | ||
| ENST00000684454.1:n.2626-38A>T | ||
| ENST00000684619.1:c.*3148-38A>T | ENSP00000508088.1:n.*3148-38A>T | |
| ENST00000684743.1:n.4307-38A>T | ||
| ENST00000260665.12:c.3276-38A>T MANE Select | ENSP00000260665.7:n.3276-38A>T | |
| ENST00000260665.11:c.3276-38A>T | ENSP00000260665.7:n.3276-38A>T | |
| NM_133259.3:c.3276-38A>T | NP_573566.2:n.3276-38A>T | |
| XM_006711915.2:c.3198-38A>T | XP_006711978.1:n.3198-38A>T | |
| XM_011532473.1:c.3276-38A>T | XP_011530775.1:n.3276-38A>T | |
| XM_011532474.1:c.3276-38A>T | XP_011530776.1:n.3276-38A>T | |
| XM_017003117.1:c.3198-38A>T | XP_016858606.1:n.3198-38A>T | |
| XR_002958896.1:n.3318-38A>T | ||
| NM_133259.4:c.3276-38A>T MANE Select | NP_573566.2:n.3276-38A>T |