Linked Data
dbSNP Id:
rs750233904
ExAC:
2:44145571 A / G
gnomAD v2:
2-44145571-A-G
gnomAD v3:
2-43918432-A-G
gnomAD v4:
2-43918432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918432A>G , CM000664.2:g.43918432A>G | GRCh38 |
| NC_000002.11:g.44145571A>G , CM000664.1:g.44145571A>G | GRCh37 |
| NC_000002.10:g.43999075A>G | NCBI36 |
| NG_008247.1:g.82574T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.415T>C | ||
| ENST00000682295.1:c.161-34T>C | ENSP00000507499.1:n.161-34T>C | |
| ENST00000682303.1:c.*2683-34T>C | ENSP00000508325.1:n.*2683-34T>C | |
| ENST00000682308.1:c.2897-34T>C | ENSP00000507056.1:n.2897-34T>C | |
| ENST00000682480.1:c.2897-34T>C | ENSP00000508344.1:n.2897-34T>C | |
| ENST00000682546.1:c.2894-34T>C | ENSP00000508188.1:n.2894-34T>C | |
| ENST00000682585.1:c.2897-34T>C | ENSP00000506885.1:n.2897-34T>C | |
| ENST00000682595.1:n.3481-34T>C | ||
| ENST00000682607.1:c.1315-34T>C | ||
| ENST00000682779.1:c.2888-34T>C | ENSP00000507947.1:n.2888-34T>C | |
| ENST00000682845.1:n.1999-34T>C | ||
| ENST00000682885.1:c.2852-34T>C | ENSP00000508036.1:n.2852-34T>C | |
| ENST00000682933.1:n.2971-34T>C | ||
| ENST00000683072.1:n.3481-34T>C | ||
| ENST00000683080.1:n.516-34T>C | ||
| ENST00000683125.1:c.3005-34T>C | ENSP00000507939.1:n.3005-34T>C | |
| ENST00000683213.1:c.2900-34T>C | ENSP00000507751.1:n.2900-34T>C | |
| ENST00000683220.1:c.2927-34T>C | ENSP00000507151.1:n.2927-34T>C | |
| ENST00000683236.1:c.227-34T>C | ENSP00000506891.1:n.227-34T>C | |
| ENST00000683329.1:n.3700-34T>C | ||
| ENST00000683346.1:c.*2772-34T>C | ENSP00000507458.1:n.*2772-34T>C | |
| ENST00000683409.1:n.1470T>C | ||
| ENST00000683459.1:n.3484-34T>C | ||
| ENST00000683590.1:c.2897-5874T>C | ENSP00000506820.1:n.2897-5874T>C | |
| ENST00000683623.1:c.2804-34T>C | ENSP00000507702.1:n.2804-34T>C | |
| ENST00000683645.1:n.3448-34T>C | ||
| ENST00000683796.1:c.*2769-34T>C | ENSP00000508221.1:n.*2769-34T>C | |
| ENST00000683802.1:n.5822-34T>C | ||
| ENST00000683833.1:c.2888-34T>C | ENSP00000506852.1:n.2888-34T>C | |
| ENST00000683994.1:c.2897-34T>C | ENSP00000507181.1:n.2897-34T>C | |
| ENST00000684290.1:c.*433-34T>C | ENSP00000507243.1:n.*433-34T>C | |
| ENST00000684306.1:c.*2810-34T>C | ENSP00000508384.1:n.*2810-34T>C | |
| ENST00000684341.1:n.2917-34T>C | ||
| ENST00000684383.1:c.*2535-34T>C | ENSP00000506863.1:n.*2535-34T>C | |
| ENST00000684619.1:c.*2769-34T>C | ENSP00000508088.1:n.*2769-34T>C | |
| ENST00000684743.1:n.3928-34T>C | ||
| ENST00000260665.12:c.2897-34T>C MANE Select | ENSP00000260665.7:n.2897-34T>C | |
| ENST00000260665.11:c.2897-34T>C | ENSP00000260665.7:n.2897-34T>C | |
| NM_133259.3:c.2897-34T>C | NP_573566.2:n.2897-34T>C | |
| XM_006711915.2:c.2819-34T>C | XP_006711978.1:n.2819-34T>C | |
| XM_006711916.2:c.2897-34T>C | XP_006711979.1:n.2897-34T>C | |
| XM_011532473.1:c.2897-34T>C | XP_011530775.1:n.2897-34T>C | |
| XM_011532474.1:c.2897-34T>C | XP_011530776.1:n.2897-34T>C | |
| XM_006711916.3:c.2897-34T>C | XP_006711979.1:n.2897-34T>C | |
| XM_017003117.1:c.2819-34T>C | XP_016858606.1:n.2819-34T>C | |
| XR_002958896.1:n.2939-34T>C | ||
| NM_133259.4:c.2897-34T>C MANE Select | NP_573566.2:n.2897-34T>C |