Linked Data
ClinVar Variation Id:
8224
ClinVar RCV Id:
RCV000008707
RCV000034570
RCV000121888
RCV000148761
RCV000574977
RCV001081022
RCV004547468
dbSNP Id:
rs138911275
ExAC:
9:98220308 G / A
gnomAD v2:
9-98220308-G-A
gnomAD v3:
9-95458026-G-A
gnomAD v4:
9-95458026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95458026G>A , CM000671.2:g.95458026G>A | GRCh38 |
| NC_000009.11:g.98220308G>A , CM000671.1:g.98220308G>A | GRCh37 |
| NC_000009.10:g.97260129G>A | NCBI36 |
| NG_007664.1:g.63940C>T , LRG_515:g.63940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.2957C>T | ENSP00000518556.1:p.Thr986Met | |
| ENST00000437951.6:c.3152C>T MANE Plus Clinical | ENSP00000389744.2:p.Thr1051Met | |
| ENST00000690194.1:c.*1463C>T | ENSP00000509379.1:n.*1463C>T | |
| ENST00000692981.1:c.2702C>T | ENSP00000510238.1:p.Thr901Met | |
| ENST00000693534.1:n.486C>T | ||
| ENST00000331920.11:c.3155C>T MANE Select | ENSP00000332353.6:p.Thr1052Met | |
| ENST00000331920.10:c.3155C>T | ENSP00000332353.6:p.Thr1052Met | |
| ENST00000375274.6:c.3152C>T | ENSP00000364423.2:p.Thr1051Met | |
| ENST00000375290.6:c.2924C>T | ENSP00000364439.2:n.2924C>T | |
| ENST00000418258.5:c.2702C>T | ENSP00000396135.1:p.Thr901Met | |
| ENST00000421141.5:c.2702C>T | ENSP00000399981.1:p.Thr901Met | |
| ENST00000429896.6:c.2702C>T | ENSP00000414823.2:p.Thr901Met | |
| ENST00000430669.6:c.2957C>T | ENSP00000410287.2:p.Thr986Met | |
| ENST00000437951.5:c.2957C>T | ENSP00000389744.1:p.Thr986Met | |
| ENST00000547615.1:n.505C>T | ||
| NM_000264.3:c.3155C>T , LRG_515t1:c.3155C>T | NP_000255.2:p.Thr1052Met | |
| NM_001083602.1:c.2957C>T , LRG_515t2:c.2957C>T | NP_001077071.1:p.Thr986Met | |
| NM_001083603.1:c.3152C>T | NP_001077072.1:p.Thr1051Met | |
| NM_001083604.1:c.2702C>T | NP_001077073.1:p.Thr901Met | |
| NM_001083605.1:c.2702C>T | NP_001077074.1:p.Thr901Met | |
| NM_001083606.1:c.2702C>T | NP_001077075.1:p.Thr901Met | |
| NM_001083607.1:c.2702C>T | NP_001077076.1:p.Thr901Met | |
| XM_005252102.2:c.2702C>T | XP_005252159.1:p.Thr901Met | |
| XM_011518868.1:c.2999C>T | XP_011517170.1:p.Thr1000Met | |
| XM_011518869.1:c.2702C>T | XP_011517171.1:p.Thr901Met | |
| XM_011518870.1:c.2702C>T | XP_011517172.1:p.Thr901Met | |
| XM_011518871.1:c.2702C>T | XP_011517173.1:p.Thr901Met | |
| XM_011518872.1:c.2702C>T | XP_011517174.1:p.Thr901Met | |
| XM_011518873.1:c.2315C>T | XP_011517175.1:p.Thr772Met | |
| XM_011518874.1:c.3155C>T | XP_011517176.1:p.Thr1052Met | |
| NM_000264.4:c.3155C>T | NP_000255.2:p.Thr1052Met | |
| NM_001083602.2:c.2957C>T | NP_001077071.1:p.Thr986Met | |
| NM_001083603.2:c.3152C>T | NP_001077072.1:p.Thr1051Met | |
| NM_001083604.2:c.2702C>T | NP_001077073.1:p.Thr901Met | |
| NM_001083605.2:c.2702C>T | NP_001077074.1:p.Thr901Met | |
| NM_001083606.2:c.2702C>T | NP_001077075.1:p.Thr901Met | |
| NM_001083607.2:c.2702C>T | NP_001077076.1:p.Thr901Met | |
| NM_001354918.1:c.2999C>T | NP_001341847.1:p.Thr1000Met | |
| NR_149061.1:n.3177C>T | ||
| NM_000264.5:c.3155C>T MANE Select | NP_000255.2:p.Thr1052Met | |
| NM_001083606.3:c.2702C>T | NP_001077075.1:p.Thr901Met | |
| NM_001354918.2:c.2999C>T | NP_001341847.1:p.Thr1000Met | |
| NR_149061.2:n.3894C>T | ||
| NM_001083602.3:c.2957C>T | NP_001077071.1:p.Thr986Met | |
| NM_001083603.3:c.3152C>T MANE Plus Clinical | NP_001077072.1:p.Thr1051Met | |
| NM_001083604.3:c.2702C>T | NP_001077073.1:p.Thr901Met | |
| NM_001083605.3:c.2702C>T | NP_001077074.1:p.Thr901Met | |
| NM_001083607.3:c.2702C>T | NP_001077076.1:p.Thr901Met |