Linked Data
dbSNP Id:
rs1052450894
gnomAD v2:
2-44126536-G-T
gnomAD v3:
2-43899397-G-T
gnomAD v4:
2-43899397-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899397G>T , CM000664.2:g.43899397G>T | GRCh38 |
| NC_000002.11:g.44126536G>T , CM000664.1:g.44126536G>T | GRCh37 |
| NC_000002.10:g.43980040G>T | NCBI36 |
| NG_008247.1:g.101609C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.141-63C>A | ||
| ENST00000472420.6:n.789-63C>A | ||
| ENST00000483489.2:n.141-63C>A | ||
| ENST00000681993.1:n.1262-63C>A | ||
| ENST00000682303.1:c.*3496-63C>A | ENSP00000508325.1:n.*3496-63C>A | |
| ENST00000682308.1:c.3710-63C>A | ENSP00000507056.1:n.3710-63C>A | |
| ENST00000682434.1:n.1261-63C>A | ||
| ENST00000682480.1:c.3728-63C>A | ENSP00000508344.1:n.3728-63C>A | |
| ENST00000682546.1:c.3707-63C>A | ENSP00000508188.1:n.3707-63C>A | |
| ENST00000682585.1:c.3710-63C>A | ENSP00000506885.1:n.3710-63C>A | |
| ENST00000682595.1:n.4294-63C>A | ||
| ENST00000682607.1:c.2128-63C>A | ||
| ENST00000682612.1:c.562-63C>A | ||
| ENST00000682779.1:c.3701-63C>A | ENSP00000507947.1:n.3701-63C>A | |
| ENST00000682845.1:n.2812-63C>A | ||
| ENST00000682885.1:c.3665-63C>A | ENSP00000508036.1:n.3665-63C>A | |
| ENST00000682933.1:n.3784-63C>A | ||
| ENST00000683002.1:c.562-63C>A | ||
| ENST00000683072.1:n.4294-63C>A | ||
| ENST00000683080.1:n.1329-63C>A | ||
| ENST00000683125.1:c.3818-63C>A | ENSP00000507939.1:n.3818-63C>A | |
| ENST00000683213.1:c.3713-63C>A | ENSP00000507751.1:n.3713-63C>A | |
| ENST00000683220.1:c.3740-63C>A | ENSP00000507151.1:n.3740-63C>A | |
| ENST00000683329.1:n.4513-63C>A | ||
| ENST00000683346.1:c.*3585-63C>A | ENSP00000507458.1:n.*3585-63C>A | |
| ENST00000683409.1:n.2317-63C>A | ||
| ENST00000683459.1:n.4297-63C>A | ||
| ENST00000683528.1:c.638-63C>A | ||
| ENST00000683590.1:c.3458-63C>A | ENSP00000506820.1:n.3458-63C>A | |
| ENST00000683623.1:c.3617-63C>A | ENSP00000507702.1:n.3617-63C>A | |
| ENST00000683645.1:n.4261-63C>A | ||
| ENST00000683796.1:c.*3582-63C>A | ENSP00000508221.1:n.*3582-63C>A | |
| ENST00000683802.1:n.6635-63C>A | ||
| ENST00000683833.1:c.3701-63C>A | ENSP00000506852.1:n.3701-63C>A | |
| ENST00000683994.1:c.3710-63C>A | ENSP00000507181.1:n.3710-63C>A | |
| ENST00000684290.1:c.*1246-63C>A | ENSP00000507243.1:n.*1246-63C>A | |
| ENST00000684306.1:c.*3623-63C>A | ENSP00000508384.1:n.*3623-63C>A | |
| ENST00000684341.1:n.3730-63C>A | ||
| ENST00000684383.1:c.*3348-63C>A | ENSP00000506863.1:n.*3348-63C>A | |
| ENST00000684418.1:n.4891-63C>A | ||
| ENST00000684433.1:n.31C>A | ||
| ENST00000684454.1:n.3060-63C>A | ||
| ENST00000684619.1:c.*3582-63C>A | ENSP00000508088.1:n.*3582-63C>A | |
| ENST00000684743.1:n.6455-63C>A | ||
| ENST00000260665.12:c.3710-63C>A MANE Select | ENSP00000260665.7:n.3710-63C>A | |
| ENST00000260665.11:c.3710-63C>A | ENSP00000260665.7:n.3710-63C>A | |
| ENST00000463456.5:n.2753-63C>A | ||
| ENST00000472420.5:n.107-63C>A | ||
| ENST00000483489.1:n.184-63C>A | ||
| NM_133259.3:c.3710-63C>A | NP_573566.2:n.3710-63C>A | |
| XM_006711915.2:c.3632-63C>A | XP_006711978.1:n.3632-63C>A | |
| XM_011532473.1:c.3710-63C>A | XP_011530775.1:n.3710-63C>A | |
| XM_011532474.1:c.3710-63C>A | XP_011530776.1:n.3710-63C>A | |
| XM_017003117.1:c.3632-63C>A | XP_016858606.1:n.3632-63C>A | |
| XR_002958896.1:n.3752-63C>A | ||
| NM_133259.4:c.3710-63C>A MANE Select | NP_573566.2:n.3710-63C>A |