Linked Data
dbSNP Id:
rs1371589016
gnomAD v2:
2-44145167-T-G
gnomAD v3:
2-43918028-T-G
gnomAD v4:
2-43918028-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918028T>G , CM000664.2:g.43918028T>G | GRCh38 |
| NC_000002.11:g.44145167T>G , CM000664.1:g.44145167T>G | GRCh37 |
| NC_000002.10:g.43998671T>G | NCBI36 |
| NG_008247.1:g.82978A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.697A>C | ||
| ENST00000682295.1:c.303+228A>C | ENSP00000507499.1:n.303+228A>C | |
| ENST00000682303.1:c.*2931A>C | ENSP00000508325.1:n.*2931A>C | |
| ENST00000682308.1:c.3145A>C | ENSP00000507056.1:p.Lys1049Gln | |
| ENST00000682480.1:c.3163A>C | ENSP00000508344.1:p.Lys1055Gln | |
| ENST00000682546.1:c.3142A>C | ENSP00000508188.1:p.Lys1048Gln | |
| ENST00000682585.1:c.3145A>C | ENSP00000506885.1:p.Lys1049Gln | |
| ENST00000682595.1:n.3729A>C | ||
| ENST00000682607.1:c.1563A>C | ||
| ENST00000682779.1:c.3136A>C | ENSP00000507947.1:p.Lys1046Gln | |
| ENST00000682845.1:n.2247A>C | ||
| ENST00000682885.1:c.3100A>C | ENSP00000508036.1:p.Lys1034Gln | |
| ENST00000682933.1:n.3219A>C | ||
| ENST00000683072.1:n.3729A>C | ||
| ENST00000683080.1:n.764A>C | ||
| ENST00000683125.1:c.3253A>C | ENSP00000507939.1:p.Lys1085Gln | |
| ENST00000683213.1:c.3148A>C | ENSP00000507751.1:p.Lys1050Gln | |
| ENST00000683220.1:c.3175A>C | ENSP00000507151.1:p.Lys1059Gln | |
| ENST00000683329.1:n.3948A>C | ||
| ENST00000683346.1:c.*3020A>C | ENSP00000507458.1:n.*3020A>C | |
| ENST00000683409.1:n.1752A>C | ||
| ENST00000683459.1:n.3732A>C | ||
| ENST00000683590.1:c.2897-5470A>C | ENSP00000506820.1:n.2897-5470A>C | |
| ENST00000683623.1:c.3052A>C | ENSP00000507702.1:p.Lys1018Gln | |
| ENST00000683645.1:n.3696A>C | ||
| ENST00000683796.1:c.*3017A>C | ENSP00000508221.1:n.*3017A>C | |
| ENST00000683802.1:n.6070A>C | ||
| ENST00000683833.1:c.3136A>C | ENSP00000506852.1:p.Lys1046Gln | |
| ENST00000683994.1:c.3145A>C | ENSP00000507181.1:p.Lys1049Gln | |
| ENST00000684290.1:c.*681A>C | ENSP00000507243.1:n.*681A>C | |
| ENST00000684306.1:c.*3058A>C | ENSP00000508384.1:n.*3058A>C | |
| ENST00000684341.1:n.3165A>C | ||
| ENST00000684383.1:c.*2783A>C | ENSP00000506863.1:n.*2783A>C | |
| ENST00000684619.1:c.*3017A>C | ENSP00000508088.1:n.*3017A>C | |
| ENST00000684705.1:n.266A>C | ||
| ENST00000684743.1:n.4176A>C | ||
| ENST00000260665.12:c.3145A>C MANE Select | ENSP00000260665.7:p.Lys1049Gln | |
| ENST00000260665.11:c.3145A>C | ENSP00000260665.7:p.Lys1049Gln | |
| NM_133259.3:c.3145A>C | NP_573566.2:p.Lys1049Gln | |
| XM_006711915.2:c.3067A>C | XP_006711978.1:p.Lys1023Gln | |
| XM_006711916.2:c.3145A>C | XP_006711979.1:p.Lys1049Gln | |
| XM_011532473.1:c.3145A>C | XP_011530775.1:p.Lys1049Gln | |
| XM_011532474.1:c.3145A>C | XP_011530776.1:p.Lys1049Gln | |
| XM_006711916.3:c.3145A>C | XP_006711979.1:p.Lys1049Gln | |
| XM_017003117.1:c.3067A>C | XP_016858606.1:p.Lys1023Gln | |
| XR_002958896.1:n.3187A>C | ||
| NM_133259.4:c.3145A>C MANE Select | NP_573566.2:p.Lys1049Gln |