Linked Data
dbSNP Id:
rs751680548
gnomAD v3:
2-43905718-G-C
gnomAD v4:
2-43905718-G-C
COSMIC:
COSM3185096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905718G>C , CM000664.2:g.43905718G>C | GRCh38 |
| NC_000002.11:g.44132857G>C , CM000664.1:g.44132857G>C | GRCh37 |
| NC_000002.10:g.43986361G>C | NCBI36 |
| NG_008247.1:g.95288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.417C>G | ||
| ENST00000681993.1:n.890C>G | ||
| ENST00000682295.1:c.493C>G | ENSP00000507499.1:n.493C>G | |
| ENST00000682303.1:c.*3124C>G | ENSP00000508325.1:n.*3124C>G | |
| ENST00000682308.1:c.3338C>G | ENSP00000507056.1:p.Thr1113Arg | |
| ENST00000682480.1:c.3356C>G | ENSP00000508344.1:p.Thr1119Arg | |
| ENST00000682546.1:c.3335C>G | ENSP00000508188.1:p.Thr1112Arg | |
| ENST00000682585.1:c.3338C>G | ENSP00000506885.1:p.Thr1113Arg | |
| ENST00000682595.1:n.3922C>G | ||
| ENST00000682607.1:c.1756C>G | ||
| ENST00000682612.1:c.190C>G | ||
| ENST00000682779.1:c.3329C>G | ENSP00000507947.1:p.Thr1110Arg | |
| ENST00000682845.1:n.2440C>G | ||
| ENST00000682885.1:c.3293C>G | ENSP00000508036.1:p.Thr1098Arg | |
| ENST00000682933.1:n.3412C>G | ||
| ENST00000683002.1:c.190C>G | ||
| ENST00000683072.1:n.3922C>G | ||
| ENST00000683080.1:n.957C>G | ||
| ENST00000683125.1:c.3446C>G | ENSP00000507939.1:p.Thr1149Arg | |
| ENST00000683213.1:c.3341C>G | ENSP00000507751.1:p.Thr1114Arg | |
| ENST00000683220.1:c.3368C>G | ENSP00000507151.1:p.Thr1123Arg | |
| ENST00000683329.1:n.4141C>G | ||
| ENST00000683346.1:c.*3213C>G | ENSP00000507458.1:n.*3213C>G | |
| ENST00000683409.1:n.1945C>G | ||
| ENST00000683459.1:n.3925C>G | ||
| ENST00000683528.1:c.190C>G | ||
| ENST00000683590.1:c.3086C>G | ENSP00000506820.1:p.Thr1029Arg | |
| ENST00000683623.1:c.3245C>G | ENSP00000507702.1:p.Thr1082Arg | |
| ENST00000683645.1:n.3889C>G | ||
| ENST00000683796.1:c.*3210C>G | ENSP00000508221.1:n.*3210C>G | |
| ENST00000683802.1:n.6263C>G | ||
| ENST00000683833.1:c.3329C>G | ENSP00000506852.1:p.Thr1110Arg | |
| ENST00000683994.1:c.3338C>G | ENSP00000507181.1:p.Thr1113Arg | |
| ENST00000684290.1:c.*874C>G | ENSP00000507243.1:n.*874C>G | |
| ENST00000684306.1:c.*3251C>G | ENSP00000508384.1:n.*3251C>G | |
| ENST00000684341.1:n.3358C>G | ||
| ENST00000684383.1:c.*2976C>G | ENSP00000506863.1:n.*2976C>G | |
| ENST00000684418.1:n.4519C>G | ||
| ENST00000684454.1:n.2688C>G | ||
| ENST00000684619.1:c.*3210C>G | ENSP00000508088.1:n.*3210C>G | |
| ENST00000684743.1:n.4369C>G | ||
| ENST00000260665.12:c.3338C>G MANE Select | ENSP00000260665.7:p.Thr1113Arg | |
| ENST00000260665.11:c.3338C>G | ENSP00000260665.7:p.Thr1113Arg | |
| NM_133259.3:c.3338C>G | NP_573566.2:p.Thr1113Arg | |
| XM_006711915.2:c.3260C>G | XP_006711978.1:p.Thr1087Arg | |
| XM_011532473.1:c.3338C>G | XP_011530775.1:p.Thr1113Arg | |
| XM_011532474.1:c.3338C>G | XP_011530776.1:p.Thr1113Arg | |
| XM_017003117.1:c.3260C>G | XP_016858606.1:p.Thr1087Arg | |
| XR_002958896.1:n.3380C>G | ||
| NM_133259.4:c.3338C>G MANE Select | NP_573566.2:p.Thr1113Arg |