Linked Data
dbSNP Id:
rs888400607
gnomAD v2:
2-44121690-T-C
gnomAD v3:
2-43894551-T-C
gnomAD v4:
2-43894551-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894551T>C , CM000664.2:g.43894551T>C | GRCh38 |
| NC_000002.11:g.44121690T>C , CM000664.1:g.44121690T>C | GRCh37 |
| NC_000002.10:g.43975194T>C | NCBI36 |
| NG_008247.1:g.106455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.609A>G | ||
| ENST00000681993.1:n.1531A>G | ||
| ENST00000682154.1:n.1413A>G | ||
| ENST00000682303.1:c.*3690A>G | ENSP00000508325.1:n.*3690A>G | |
| ENST00000682308.1:c.3904A>G | ENSP00000507056.1:p.Ser1302Gly | |
| ENST00000682434.1:n.3534A>G | ||
| ENST00000682480.1:c.3997A>G | ENSP00000508344.1:p.Ser1333Gly | |
| ENST00000682546.1:c.3976A>G | ENSP00000508188.1:p.Ser1326Gly | |
| ENST00000682585.1:c.*107A>G | ENSP00000506885.1:n.*107A>G | |
| ENST00000682607.1:c.2722A>G | ||
| ENST00000682612.1:c.752+2083A>G | ||
| ENST00000682696.1:c.79A>G | ENSP00000508411.1:p.Ser27Gly | |
| ENST00000682779.1:c.3970A>G | ENSP00000507947.1:p.Ser1324Gly | |
| ENST00000682885.1:c.3934A>G | ENSP00000508036.1:p.Ser1312Gly | |
| ENST00000682933.1:n.4179A>G | ||
| ENST00000683002.1:c.831A>G | ||
| ENST00000683072.1:n.4563A>G | ||
| ENST00000683080.1:n.1598A>G | ||
| ENST00000683096.1:n.2420A>G | ||
| ENST00000683125.1:c.4087A>G | ENSP00000507939.1:p.Ser1363Gly | |
| ENST00000683213.1:c.3982A>G | ENSP00000507751.1:p.Ser1328Gly | |
| ENST00000683220.1:c.4009A>G | ENSP00000507151.1:p.Ser1337Gly | |
| ENST00000683329.1:n.4782A>G | ||
| ENST00000683346.1:c.*3854A>G | ENSP00000507458.1:n.*3854A>G | |
| ENST00000683409.1:n.2511A>G | ||
| ENST00000683459.1:n.4566A>G | ||
| ENST00000683590.1:c.3652A>G | ENSP00000506820.1:p.Ser1218Gly | |
| ENST00000683623.1:c.3886A>G | ENSP00000507702.1:p.Ser1296Gly | |
| ENST00000683796.1:c.*3776A>G | ENSP00000508221.1:n.*3776A>G | |
| ENST00000683833.1:c.3895A>G | ENSP00000506852.1:p.Ser1299Gly | |
| ENST00000683994.1:c.*92A>G | ENSP00000507181.1:n.*92A>G | |
| ENST00000684290.1:c.*1440A>G | ENSP00000507243.1:n.*1440A>G | |
| ENST00000684306.1:c.*3892A>G | ENSP00000508384.1:n.*3892A>G | |
| ENST00000684383.1:c.*3617A>G | ENSP00000506863.1:n.*3617A>G | |
| ENST00000684418.1:n.5160A>G | ||
| ENST00000684433.1:n.363A>G | ||
| ENST00000684454.1:n.7843A>G | ||
| ENST00000684619.1:c.*3851A>G | ENSP00000508088.1:n.*3851A>G | |
| ENST00000684743.1:n.6724A>G | ||
| ENST00000260665.12:c.3979A>G MANE Select | ENSP00000260665.7:p.Ser1327Gly | |
| ENST00000260665.11:c.3979A>G | ENSP00000260665.7:p.Ser1327Gly | |
| ENST00000419884.5:c.220A>G | ENSP00000414207.1:p.Ser74Gly | |
| ENST00000463456.5:n.3022A>G | ||
| NM_133259.3:c.3979A>G | NP_573566.2:p.Ser1327Gly | |
| XM_006711915.2:c.3901A>G | XP_006711978.1:p.Ser1301Gly | |
| XM_011532473.1:c.3904A>G | XP_011530775.1:p.Ser1302Gly | |
| XM_011532474.1:c.3979A>G | XP_011530776.1:p.Ser1327Gly | |
| XM_017003117.1:c.3826A>G | XP_016858606.1:p.Ser1276Gly | |
| XR_002958896.1:n.4021A>G | ||
| NM_133259.4:c.3979A>G MANE Select | NP_573566.2:p.Ser1327Gly |