Linked Data
dbSNP Id:
rs1412009992
gnomAD v2:
2-44145168-T-G
gnomAD v3:
2-43918029-T-G
gnomAD v4:
2-43918029-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918029T>G , CM000664.2:g.43918029T>G | GRCh38 |
| NC_000002.11:g.44145168T>G , CM000664.1:g.44145168T>G | GRCh37 |
| NC_000002.10:g.43998672T>G | NCBI36 |
| NG_008247.1:g.82977A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.696A>C | ||
| ENST00000682295.1:c.303+227A>C | ENSP00000507499.1:n.303+227A>C | |
| ENST00000682303.1:c.*2930A>C | ENSP00000508325.1:n.*2930A>C | |
| ENST00000682308.1:c.3144A>C | ENSP00000507056.1:p.Lys1048Asn | |
| ENST00000682480.1:c.3162A>C | ENSP00000508344.1:p.Lys1054Asn | |
| ENST00000682546.1:c.3141A>C | ENSP00000508188.1:p.Lys1047Asn | |
| ENST00000682585.1:c.3144A>C | ENSP00000506885.1:p.Lys1048Asn | |
| ENST00000682595.1:n.3728A>C | ||
| ENST00000682607.1:c.1562A>C | ||
| ENST00000682779.1:c.3135A>C | ENSP00000507947.1:p.Lys1045Asn | |
| ENST00000682845.1:n.2246A>C | ||
| ENST00000682885.1:c.3099A>C | ENSP00000508036.1:p.Lys1033Asn | |
| ENST00000682933.1:n.3218A>C | ||
| ENST00000683072.1:n.3728A>C | ||
| ENST00000683080.1:n.763A>C | ||
| ENST00000683125.1:c.3252A>C | ENSP00000507939.1:p.Lys1084Asn | |
| ENST00000683213.1:c.3147A>C | ENSP00000507751.1:p.Lys1049Asn | |
| ENST00000683220.1:c.3174A>C | ENSP00000507151.1:p.Lys1058Asn | |
| ENST00000683329.1:n.3947A>C | ||
| ENST00000683346.1:c.*3019A>C | ENSP00000507458.1:n.*3019A>C | |
| ENST00000683409.1:n.1751A>C | ||
| ENST00000683459.1:n.3731A>C | ||
| ENST00000683590.1:c.2897-5471A>C | ENSP00000506820.1:n.2897-5471A>C | |
| ENST00000683623.1:c.3051A>C | ENSP00000507702.1:p.Lys1017Asn | |
| ENST00000683645.1:n.3695A>C | ||
| ENST00000683796.1:c.*3016A>C | ENSP00000508221.1:n.*3016A>C | |
| ENST00000683802.1:n.6069A>C | ||
| ENST00000683833.1:c.3135A>C | ENSP00000506852.1:p.Lys1045Asn | |
| ENST00000683994.1:c.3144A>C | ENSP00000507181.1:p.Lys1048Asn | |
| ENST00000684290.1:c.*680A>C | ENSP00000507243.1:n.*680A>C | |
| ENST00000684306.1:c.*3057A>C | ENSP00000508384.1:n.*3057A>C | |
| ENST00000684341.1:n.3164A>C | ||
| ENST00000684383.1:c.*2782A>C | ENSP00000506863.1:n.*2782A>C | |
| ENST00000684619.1:c.*3016A>C | ENSP00000508088.1:n.*3016A>C | |
| ENST00000684705.1:n.265A>C | ||
| ENST00000684743.1:n.4175A>C | ||
| ENST00000260665.12:c.3144A>C MANE Select | ENSP00000260665.7:p.Lys1048Asn | |
| ENST00000260665.11:c.3144A>C | ENSP00000260665.7:p.Lys1048Asn | |
| NM_133259.3:c.3144A>C | NP_573566.2:p.Lys1048Asn | |
| XM_006711915.2:c.3066A>C | XP_006711978.1:p.Lys1022Asn | |
| XM_006711916.2:c.3144A>C | XP_006711979.1:p.Lys1048Asn | |
| XM_011532473.1:c.3144A>C | XP_011530775.1:p.Lys1048Asn | |
| XM_011532474.1:c.3144A>C | XP_011530776.1:p.Lys1048Asn | |
| XM_006711916.3:c.3144A>C | XP_006711979.1:p.Lys1048Asn | |
| XM_017003117.1:c.3066A>C | XP_016858606.1:p.Lys1022Asn | |
| XR_002958896.1:n.3186A>C | ||
| NM_133259.4:c.3144A>C MANE Select | NP_573566.2:p.Lys1048Asn |