Linked Data
ClinVar Variation Id:
234185
dbSNP Id:
rs876660908
gnomAD v3:
17-31249064-G-C
gnomAD v4:
17-31249064-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31249064G>C , CM000679.2:g.31249064G>C | GRCh38 |
| NC_000017.10:g.29576082G>C , CM000679.1:g.29576082G>C | GRCh37 |
| NC_000017.9:g.26600208G>C | NCBI36 |
| NG_009018.1:g.159088G>C , LRG_214:g.159088G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.4100G>C | ENSP00000512431.1:p.Ser1367Thr | |
| ENST00000696139.1:c.1518G>C | ENSP00000512432.1:n.1518G>C | |
| ENST00000696140.1:n.161G>C | ||
| ENST00000687863.1:n.763G>C | ||
| ENST00000691014.1:c.4085G>C | ENSP00000510595.1:p.Ser1362Thr | |
| ENST00000358273.9:c.4055G>C MANE Select | ENSP00000351015.4:p.Ser1352Thr | |
| ENST00000356175.7:c.4055G>C | ENSP00000348498.3:p.Ser1352Thr | |
| ENST00000358273.8:c.4055G>C | ENSP00000351015.4:p.Ser1352Thr | |
| ENST00000456735.6:c.3053G>C | ENSP00000389907.2:p.Ser1018Thr | |
| ENST00000466819.5:c.531G>C | ||
| ENST00000479614.1:c.531G>C | ||
| ENST00000493220.5:n.2591G>C | ||
| ENST00000495910.6:c.3830G>C | ||
| ENST00000579081.5:c.4157G>C | ENSP00000462408.1:p.Ser1386Thr | |
| NM_000267.3:c.4055G>C , LRG_214t1:c.4055G>C | NP_000258.1:p.Ser1352Thr | |
| NM_001042492.2:c.4055G>C , LRG_214t2:c.4055G>C | NP_001035957.1:p.Ser1352Thr | |
| XM_005257983.1:c.4055G>C | XP_005258040.1:p.Ser1352Thr | |
| XM_005257984.1:c.4055G>C | XP_005258041.1:p.Ser1352Thr | |
| XM_006721922.1:c.4085G>C | XP_006721985.1:p.Ser1362Thr | |
| XM_006721923.2:c.4046G>C | XP_006721986.1:p.Ser1349Thr | |
| XM_006721924.1:c.4085G>C | XP_006721987.1:p.Ser1362Thr | |
| XM_006721925.1:c.4085G>C | XP_006721988.1:p.Ser1362Thr | |
| XM_006721926.2:c.4085G>C | XP_006721989.1:p.Ser1362Thr | |
| XM_006721927.1:c.4085G>C | XP_006721990.1:p.Ser1362Thr | |
| XM_006721928.2:c.4085G>C | XP_006721991.1:p.Ser1362Thr | |
| XM_011524852.1:c.4082G>C | XP_011523154.1:p.Ser1361Thr | |
| XM_011524853.1:c.4046G>C | XP_011523155.1:p.Ser1349Thr | |
| XM_011524854.1:c.4046G>C | XP_011523156.1:p.Ser1349Thr | |
| XM_011524855.1:c.4046G>C | XP_011523157.1:p.Ser1349Thr | |
| XM_011524856.1:c.4046G>C | XP_011523158.1:p.Ser1349Thr | |
| XM_011524857.1:c.4085G>C | XP_011523159.1:p.Ser1362Thr | |
| NM_001042492.3:c.4055G>C MANE Select | NP_001035957.1:p.Ser1352Thr |