Linked Data
ClinVar Variation Id:
1063130
ClinVar RCV Id:
RCV003232334
dbSNP Id:
rs28580074
ExAC:
5:176721198 T / A
gnomAD v2:
5-176721198-T-A
gnomAD v3:
5-177294197-T-A
gnomAD v4:
5-177294197-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177294197T>A , CM000667.2:g.177294197T>A | GRCh38 |
| NC_000005.9:g.176721198T>A , CM000667.1:g.176721198T>A | GRCh37 |
| NC_000005.8:g.176653804T>A | NCBI36 |
| NG_009821.1:g.166119T>A , LRG_512:g.166119T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.5956T>A | ENSP00000423372.3:p.Leu1986Met | |
| ENST00000347982.9:c.5956T>A | ENSP00000343209.5:p.Leu1986Met | |
| ENST00000354179.9:c.5956T>A | ENSP00000346111.5:p.Leu1986Met | |
| ENST00000503056.6:c.1471T>A | ENSP00000424024.2:p.Leu491Met | |
| ENST00000508029.6:c.1471T>A | ENSP00000425120.2:p.Leu491Met | |
| ENST00000685206.1:n.6412T>A | ||
| ENST00000686385.1:n.1245T>A | ||
| ENST00000686993.1:c.5956T>A | ENSP00000510020.1:p.Leu1986Met | |
| ENST00000687453.1:c.6520T>A | ENSP00000508426.1:p.Leu2174Met | |
| ENST00000688613.1:n.6226T>A | ||
| ENST00000689345.1:c.5956T>A | ENSP00000509711.1:p.Leu1986Met | |
| ENST00000439151.7:c.6829T>A MANE Select | ENSP00000395929.2:p.Leu2277Met | |
| ENST00000347982.8:c.6022T>A | ENSP00000343209.4:p.Leu2008Met | |
| ENST00000354179.8:c.6022T>A | ENSP00000346111.4:p.Leu2008Met | |
| ENST00000439151.6:c.6829T>A | ENSP00000395929.2:p.Leu2277Met | |
| NM_022455.4:c.6829T>A , LRG_512t1:c.6829T>A | NP_071900.2:p.Leu2277Met | |
| NM_172349.2:c.6022T>A | NP_758859.1:p.Leu2008Met | |
| XM_005265959.1:c.6829T>A | XP_005266016.1:p.Leu2277Met | |
| XM_005265960.1:c.6022T>A | XP_005266017.1:p.Leu2008Met | |
| XM_005265961.1:c.6022T>A | XP_005266018.1:p.Leu2008Met | |
| XM_005265962.3:c.2323T>A | XP_005266019.1:p.Leu775Met | |
| XM_011534610.1:c.6829T>A | XP_011532912.1:p.Leu2277Met | |
| XM_011534611.1:c.6829T>A | XP_011532913.1:p.Leu2277Met | |
| XM_011534612.1:c.6409T>A | XP_011532914.1:p.Leu2137Met | |
| XM_011534613.1:c.5773T>A | XP_011532915.1:p.Leu1925Met | |
| XM_011534617.1:c.2563T>A | XP_011532919.1:p.Leu855Met | |
| NM_001365684.1:c.6022T>A | NP_001352613.1:p.Leu2008Met | |
| XM_024446150.1:c.6829T>A | XP_024301918.1:p.Leu2277Met | |
| XM_024446151.1:c.6829T>A | XP_024301919.1:p.Leu2277Met | |
| XM_024446152.1:c.6829T>A | XP_024301920.1:p.Leu2277Met | |
| XM_024446153.1:c.6829T>A | XP_024301921.1:p.Leu2277Met | |
| XM_024446154.1:c.6409T>A | XP_024301922.1:p.Leu2137Met | |
| XM_024446155.1:c.6022T>A | XP_024301923.1:p.Leu2008Met | |
| XM_024446156.1:c.6022T>A | XP_024301924.1:p.Leu2008Met | |
| XM_024446158.1:c.6022T>A | XP_024301926.1:p.Leu2008Met | |
| XM_024446159.1:c.5773T>A | XP_024301927.1:p.Leu1925Met | |
| XM_024446162.1:c.2563T>A | XP_024301930.1:p.Leu855Met | |
| XM_024446163.1:c.2323T>A | XP_024301931.1:p.Leu775Met | |
| NM_022455.5:c.6829T>A MANE Select | NP_071900.2:p.Leu2277Met | |
| NM_172349.3:c.6022T>A | NP_758859.1:p.Leu2008Met |