Linked Data
dbSNP Id:
rs74601006
ExAC:
17:29665805 A / C
gnomAD v2:
17-29665805-A-C
gnomAD v4:
17-31338787-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338787A>C , CM000679.2:g.31338787A>C | GRCh38 |
| NC_000017.10:g.29665805A>C , CM000679.1:g.29665805A>C | GRCh37 |
| NC_000017.9:g.26689931A>C | NCBI36 |
| NG_009018.1:g.248811A>C , LRG_214:g.248811A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6885A>C | ENSP00000512431.1:p.Leu2295Phe | |
| ENST00000684826.1:c.1467A>C | ENSP00000509994.1:p.Leu489Phe | |
| ENST00000684998.1:n.2725A>C | ||
| ENST00000687027.1:c.1059A>C | ENSP00000508715.1:p.Leu353Phe | |
| ENST00000687863.1:n.3548A>C | ||
| ENST00000691014.1:c.6933A>C | ENSP00000510595.1:p.Leu2311Phe | |
| ENST00000693617.1:c.1467A>C | ENSP00000510031.1:p.Leu489Phe | |
| ENST00000358273.9:c.6903A>C MANE Select | ENSP00000351015.4:p.Leu2301Phe | |
| ENST00000356175.7:c.6840A>C | ENSP00000348498.3:p.Leu2280Phe | |
| ENST00000358273.8:c.6903A>C | ENSP00000351015.4:p.Leu2301Phe | |
| ENST00000456735.6:c.5838A>C | ENSP00000389907.2:p.Leu1946Phe | |
| ENST00000471572.6:c.286A>C | ||
| ENST00000579081.5:c.7039A>C | ENSP00000462408.1:n.7039A>C | |
| ENST00000581790.5:c.64+907A>C | ||
| ENST00000584328.1:n.317A>C | ||
| NM_000267.3:c.6840A>C , LRG_214t1:c.6840A>C | NP_000258.1:p.Leu2280Phe | |
| NM_001042492.2:c.6903A>C , LRG_214t2:c.6903A>C | NP_001035957.1:p.Leu2301Phe | |
| XM_005257983.1:c.6903A>C | XP_005258040.1:p.Leu2301Phe | |
| XM_005257984.1:c.6840A>C | XP_005258041.1:p.Leu2280Phe | |
| XM_006721922.1:c.6933A>C | XP_006721985.1:p.Leu2311Phe | |
| XM_006721923.2:c.6894A>C | XP_006721986.1:p.Leu2298Phe | |
| XM_006721924.1:c.6933A>C | XP_006721987.1:p.Leu2311Phe | |
| XM_006721925.1:c.6870A>C | XP_006721988.1:p.Leu2290Phe | |
| XM_006721926.2:c.6933A>C | XP_006721989.1:p.Leu2311Phe | |
| XM_006721927.1:c.6933A>C | XP_006721990.1:p.Leu2311Phe | |
| XM_011524852.1:c.6930A>C | XP_011523154.1:p.Leu2310Phe | |
| XM_011524853.1:c.6894A>C | XP_011523155.1:p.Leu2298Phe | |
| XM_011524854.1:c.6894A>C | XP_011523156.1:p.Leu2298Phe | |
| XM_011524855.1:c.6894A>C | XP_011523157.1:p.Leu2298Phe | |
| XM_011524856.1:c.6894A>C | XP_011523158.1:p.Leu2298Phe | |
| XM_011524857.1:c.6933A>C | XP_011523159.1:p.Leu2311Phe | |
| NM_001042492.3:c.6903A>C MANE Select | NP_001035957.1:p.Leu2301Phe |