Linked Data
ClinVar Variation Id:
404586
dbSNP Id:
rs754909198
ExAC:
17:29662053 T / C
gnomAD v2:
17-29662053-T-C
gnomAD v4:
17-31335035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31335035T>C , CM000679.2:g.31335035T>C | GRCh38 |
| NC_000017.10:g.29662053T>C , CM000679.1:g.29662053T>C | GRCh37 |
| NC_000017.9:g.26686179T>C | NCBI36 |
| NG_009018.1:g.245059T>C , LRG_214:g.245059T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2194+4T>C | ENSP00000492721.2:n.2194+4T>C | |
| ENST00000696138.1:c.5988+4T>C | ENSP00000512431.1:n.5988+4T>C | |
| ENST00000684826.1:c.570+4T>C | ENSP00000509994.1:n.570+4T>C | |
| ENST00000687027.1:c.162+4T>C | ENSP00000508715.1:n.162+4T>C | |
| ENST00000687863.1:n.2651+4T>C | ||
| ENST00000691014.1:c.6036+4T>C | ENSP00000510595.1:n.6036+4T>C | |
| ENST00000693617.1:c.570+4T>C | ENSP00000510031.1:n.570+4T>C | |
| ENST00000358273.9:c.6006+4T>C MANE Select | ENSP00000351015.4:n.6006+4T>C | |
| ENST00000356175.7:c.5943+4T>C | ENSP00000348498.3:n.5943+4T>C | |
| ENST00000358273.8:c.6006+4T>C | ENSP00000351015.4:n.6006+4T>C | |
| ENST00000456735.6:c.4941+4T>C | ENSP00000389907.2:n.4941+4T>C | |
| ENST00000479536.2:c.431+4T>C | ||
| ENST00000579081.5:c.6142+4T>C | ENSP00000462408.1:n.6142+4T>C | |
| ENST00000581113.6:n.1323+4T>C | ||
| NM_000267.3:c.5943+4T>C , LRG_214t1:c.5943+4T>C | NP_000258.1:n.5943+4T>C | |
| NM_001042492.2:c.6006+4T>C , LRG_214t2:c.6006+4T>C | NP_001035957.1:n.6006+4T>C | |
| XM_005257983.1:c.6006+4T>C | XP_005258040.1:n.6006+4T>C | |
| XM_005257984.1:c.5943+4T>C | XP_005258041.1:n.5943+4T>C | |
| XM_006721922.1:c.6036+4T>C | XP_006721985.1:n.6036+4T>C | |
| XM_006721923.2:c.5997+4T>C | XP_006721986.1:n.5997+4T>C | |
| XM_006721924.1:c.6036+4T>C | XP_006721987.1:n.6036+4T>C | |
| XM_006721925.1:c.5973+4T>C | XP_006721988.1:n.5973+4T>C | |
| XM_006721926.2:c.6036+4T>C | XP_006721989.1:n.6036+4T>C | |
| XM_006721927.1:c.6036+4T>C | XP_006721990.1:n.6036+4T>C | |
| XM_011524852.1:c.6033+4T>C | XP_011523154.1:n.6033+4T>C | |
| XM_011524853.1:c.5997+4T>C | XP_011523155.1:n.5997+4T>C | |
| XM_011524854.1:c.5997+4T>C | XP_011523156.1:n.5997+4T>C | |
| XM_011524855.1:c.5997+4T>C | XP_011523157.1:n.5997+4T>C | |
| XM_011524856.1:c.5997+4T>C | XP_011523158.1:n.5997+4T>C | |
| XM_011524857.1:c.6036+4T>C | XP_011523159.1:n.6036+4T>C | |
| NM_001042492.3:c.6006+4T>C MANE Select | NP_001035957.1:n.6006+4T>C |