Linked Data
ClinVar Variation Id:
1022670
dbSNP Id:
rs1293010884
gnomAD v2:
17-29670047-G-A
gnomAD v4:
17-31343029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31343029G>A , CM000679.2:g.31343029G>A | GRCh38 |
| NC_000017.10:g.29670047G>A , CM000679.1:g.29670047G>A | GRCh37 |
| NC_000017.9:g.26694173G>A | NCBI36 |
| NG_009018.1:g.253053G>A , LRG_214:g.253053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7065G>A | ENSP00000512431.1:p.Met2355Ile | |
| ENST00000684826.1:c.1647G>A | ENSP00000509994.1:p.Met549Ile | |
| ENST00000687027.1:c.1239G>A | ENSP00000508715.1:p.Met413Ile | |
| ENST00000687863.1:n.3728G>A | ||
| ENST00000689464.1:c.22G>A | ||
| ENST00000691014.1:c.7113G>A | ENSP00000510595.1:p.Met2371Ile | |
| ENST00000693617.1:c.1647G>A | ENSP00000510031.1:p.Met549Ile | |
| ENST00000358273.9:c.7083G>A MANE Select | ENSP00000351015.4:p.Met2361Ile | |
| ENST00000356175.7:c.7020G>A | ENSP00000348498.3:p.Met2340Ile | |
| ENST00000358273.8:c.7083G>A | ENSP00000351015.4:p.Met2361Ile | |
| ENST00000456735.6:c.6018G>A | ENSP00000389907.2:p.Met2006Ile | |
| ENST00000471572.6:c.466G>A | ||
| ENST00000579081.5:c.7219G>A | ENSP00000462408.1:n.7219G>A | |
| ENST00000581790.5:c.226G>A | ||
| ENST00000582892.1:n.325G>A | ||
| ENST00000584328.1:n.497G>A | ||
| NM_000267.3:c.7020G>A , LRG_214t1:c.7020G>A | NP_000258.1:p.Met2340Ile | |
| NM_001042492.2:c.7083G>A , LRG_214t2:c.7083G>A | NP_001035957.1:p.Met2361Ile | |
| XM_005257983.1:c.7083G>A | XP_005258040.1:p.Met2361Ile | |
| XM_005257984.1:c.7020G>A | XP_005258041.1:p.Met2340Ile | |
| XM_006721922.1:c.7113G>A | XP_006721985.1:p.Met2371Ile | |
| XM_006721923.2:c.7074G>A | XP_006721986.1:p.Met2358Ile | |
| XM_006721924.1:c.7113G>A | XP_006721987.1:p.Met2371Ile | |
| XM_006721925.1:c.7050G>A | XP_006721988.1:p.Met2350Ile | |
| XM_006721926.2:c.7113G>A | XP_006721989.1:p.Met2371Ile | |
| XM_006721927.1:c.7113G>A | XP_006721990.1:p.Met2371Ile | |
| XM_011524852.1:c.7110G>A | XP_011523154.1:p.Met2370Ile | |
| XM_011524853.1:c.7074G>A | XP_011523155.1:p.Met2358Ile | |
| XM_011524854.1:c.7074G>A | XP_011523156.1:p.Met2358Ile | |
| XM_011524855.1:c.7074G>A | XP_011523157.1:p.Met2358Ile | |
| XM_011524856.1:c.7074G>A | XP_011523158.1:p.Met2358Ile | |
| XM_011524857.1:c.7113G>A | XP_011523159.1:p.Met2371Ile | |
| NM_001042492.3:c.7083G>A MANE Select | NP_001035957.1:p.Met2361Ile |