Linked Data
ClinVar Variation Id:
184460
ClinVar RCV Id:
RCV000163716
RCV000301011
RCV000353715
RCV000340759
RCV000394144
RCV000616739
RCV002274959
RCV004551407
dbSNP Id:
rs371581213
ExAC:
17:29667627 G / A
gnomAD v2:
17-29667627-G-A
gnomAD v3:
17-31340609-G-A
gnomAD v4:
17-31340609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31340609G>A , CM000679.2:g.31340609G>A | GRCh38 |
| NC_000017.10:g.29667627G>A , CM000679.1:g.29667627G>A | GRCh37 |
| NC_000017.9:g.26691753G>A | NCBI36 |
| NG_009018.1:g.250633G>A , LRG_214:g.250633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7008G>A | ENSP00000512431.1:p.Leu2336= | |
| ENST00000684826.1:c.1590G>A | ENSP00000509994.1:p.Leu530= | |
| ENST00000684998.1:n.4547G>A | ||
| ENST00000687027.1:c.1182G>A | ENSP00000508715.1:p.Leu394= | |
| ENST00000687863.1:n.3671G>A | ||
| ENST00000691014.1:c.7056G>A | ENSP00000510595.1:p.Leu2352= | |
| ENST00000693617.1:c.1590G>A | ENSP00000510031.1:p.Leu530= | |
| ENST00000358273.9:c.7026G>A MANE Select | ENSP00000351015.4:p.Leu2342= | |
| ENST00000356175.7:c.6963G>A | ENSP00000348498.3:p.Leu2321= | |
| ENST00000358273.8:c.7026G>A | ENSP00000351015.4:p.Leu2342= | |
| ENST00000456735.6:c.5961G>A | ENSP00000389907.2:p.Leu1987= | |
| ENST00000471572.6:c.409G>A | ||
| ENST00000579081.5:c.7162G>A | ENSP00000462408.1:n.7162G>A | |
| ENST00000581790.5:c.169G>A | ||
| ENST00000582892.1:n.304+26G>A | ||
| ENST00000584328.1:n.440G>A | ||
| NM_000267.3:c.6963G>A , LRG_214t1:c.6963G>A | NP_000258.1:p.Leu2321= | |
| NM_001042492.2:c.7026G>A , LRG_214t2:c.7026G>A | NP_001035957.1:p.Leu2342= | |
| XM_005257983.1:c.7026G>A | XP_005258040.1:p.Leu2342= | |
| XM_005257984.1:c.6963G>A | XP_005258041.1:p.Leu2321= | |
| XM_006721922.1:c.7056G>A | XP_006721985.1:p.Leu2352= | |
| XM_006721923.2:c.7017G>A | XP_006721986.1:p.Leu2339= | |
| XM_006721924.1:c.7056G>A | XP_006721987.1:p.Leu2352= | |
| XM_006721925.1:c.6993G>A | XP_006721988.1:p.Leu2331= | |
| XM_006721926.2:c.7056G>A | XP_006721989.1:p.Leu2352= | |
| XM_006721927.1:c.7056G>A | XP_006721990.1:p.Leu2352= | |
| XM_011524852.1:c.7053G>A | XP_011523154.1:p.Leu2351= | |
| XM_011524853.1:c.7017G>A | XP_011523155.1:p.Leu2339= | |
| XM_011524854.1:c.7017G>A | XP_011523156.1:p.Leu2339= | |
| XM_011524855.1:c.7017G>A | XP_011523157.1:p.Leu2339= | |
| XM_011524856.1:c.7017G>A | XP_011523158.1:p.Leu2339= | |
| XM_011524857.1:c.7056G>A | XP_011523159.1:p.Leu2352= | |
| NM_001042492.3:c.7026G>A MANE Select | NP_001035957.1:p.Leu2342= |