Linked Data
ClinVar Variation Id:
484158
dbSNP Id:
rs974310759
gnomAD v2:
17-29654801-T-C
gnomAD v4:
17-31327783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327783T>C , CM000679.2:g.31327783T>C | GRCh38 |
| NC_000017.10:g.29654801T>C , CM000679.1:g.29654801T>C | GRCh37 |
| NC_000017.9:g.26678927T>C | NCBI36 |
| NG_009018.1:g.237807T>C , LRG_214:g.237807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1741T>C | ENSP00000492721.2:n.1741T>C | |
| ENST00000696138.1:c.5535T>C | ENSP00000512431.1:p.Pro1845= | |
| ENST00000684826.1:c.117T>C | ENSP00000509994.1:p.Pro39= | |
| ENST00000687027.1:c.-236+1531T>C | ENSP00000508715.1:n.-236+1531T>C | |
| ENST00000687863.1:n.2198T>C | ||
| ENST00000691014.1:c.5583T>C | ENSP00000510595.1:p.Pro1861= | |
| ENST00000693617.1:c.117T>C | ENSP00000510031.1:p.Pro39= | |
| ENST00000358273.9:c.5553T>C MANE Select | ENSP00000351015.4:p.Pro1851= | |
| ENST00000356175.7:c.5490T>C | ENSP00000348498.3:p.Pro1830= | |
| ENST00000358273.8:c.5553T>C | ENSP00000351015.4:p.Pro1851= | |
| ENST00000456735.6:c.4488T>C | ENSP00000389907.2:p.Pro1496= | |
| ENST00000493220.5:n.4026T>C | ||
| ENST00000579081.5:c.5689T>C | ENSP00000462408.1:n.5689T>C | |
| ENST00000581113.6:n.870T>C | ||
| NM_000267.3:c.5490T>C , LRG_214t1:c.5490T>C | NP_000258.1:p.Pro1830= | |
| NM_001042492.2:c.5553T>C , LRG_214t2:c.5553T>C | NP_001035957.1:p.Pro1851= | |
| XM_005257983.1:c.5553T>C | XP_005258040.1:p.Pro1851= | |
| XM_005257984.1:c.5490T>C | XP_005258041.1:p.Pro1830= | |
| XM_006721922.1:c.5583T>C | XP_006721985.1:p.Pro1861= | |
| XM_006721923.2:c.5544T>C | XP_006721986.1:p.Pro1848= | |
| XM_006721924.1:c.5583T>C | XP_006721987.1:p.Pro1861= | |
| XM_006721925.1:c.5520T>C | XP_006721988.1:p.Pro1840= | |
| XM_006721926.2:c.5583T>C | XP_006721989.1:p.Pro1861= | |
| XM_006721927.1:c.5583T>C | XP_006721990.1:p.Pro1861= | |
| XM_011524852.1:c.5580T>C | XP_011523154.1:p.Pro1860= | |
| XM_011524853.1:c.5544T>C | XP_011523155.1:p.Pro1848= | |
| XM_011524854.1:c.5544T>C | XP_011523156.1:p.Pro1848= | |
| XM_011524855.1:c.5544T>C | XP_011523157.1:p.Pro1848= | |
| XM_011524856.1:c.5544T>C | XP_011523158.1:p.Pro1848= | |
| XM_011524857.1:c.5583T>C | XP_011523159.1:p.Pro1861= | |
| NM_001042492.3:c.5553T>C MANE Select | NP_001035957.1:p.Pro1851= |