Linked Data
ClinVar Variation Id:
161424
dbSNP Id:
rs373957300
ExAC:
14:105695169 G / A
gnomAD v2:
14-105695169-G-A
gnomAD v3:
14-105228832-G-A
gnomAD v4:
14-105228832-G-A
PubMed:
PMID:25561519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105228832G>A , CM000676.2:g.105228832G>A | GRCh38 |
| NC_000014.8:g.105695169G>A , CM000676.1:g.105695169G>A | GRCh37 |
| NC_000014.7:g.104766214G>A | NCBI36 |
| NG_029489.1:g.91746C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547530.7:c.776C>T MANE Select | ENSP00000448387.2:p.Thr259Met | |
| ENST00000327359.7:c.431C>T | ENSP00000329029.3:p.Thr144Met | |
| ENST00000379932.8:c.164C>T | ENSP00000369264.5:p.Thr55Met | |
| ENST00000379937.6:c.695C>T | ENSP00000369269.2:p.Thr232Met | |
| ENST00000392557.8:c.164C>T | ENSP00000376340.4:p.Thr55Met | |
| ENST00000440513.7:c.431C>T | ENSP00000388877.3:p.Thr144Met | |
| ENST00000446501.6:c.62C>T | ENSP00000389859.2:p.Thr21Met | |
| ENST00000546417.5:c.336C>T | ||
| ENST00000547530.6:c.776C>T | ENSP00000448387.2:p.Thr259Met | |
| ENST00000549655.5:c.164C>T | ENSP00000448723.2:p.Thr55Met | |
| ENST00000551787.5:c.164C>T | ENSP00000446901.1:p.Thr55Met | |
| ENST00000552127.5:c.164C>T | ENSP00000449788.1:p.Thr55Met | |
| ENST00000619151.4:c.164C>T | ENSP00000480452.1:p.Thr55Met | |
| NM_001242786.1:c.431C>T | NP_001229715.1:p.Thr144Met | |
| NM_001242787.1:c.431C>T | NP_001229716.1:p.Thr144Met | |
| NM_001242788.1:c.695C>T | NP_001229717.1:p.Thr232Met | |
| NM_001242789.1:c.62C>T | NP_001229718.1:p.Thr21Met | |
| NM_001519.3:c.776C>T | NP_001510.2:p.Thr259Met | |
| NM_145685.2:c.164C>T | NP_663718.1:p.Thr55Met | |
| XM_005267561.3:c.776C>T | XP_005267618.1:p.Thr259Met | |
| XM_005267563.2:c.164C>T | XP_005267620.1:p.Thr55Met | |
| XM_006720123.2:c.113C>T | XP_006720186.1:p.Thr38Met | |
| XM_011536672.1:c.776C>T | XP_011534974.1:p.Thr259Met | |
| XM_011536673.1:c.626C>T | XP_011534975.1:p.Thr209Met | |
| XM_011536674.1:c.263C>T | XP_011534976.1:p.Thr88Met | |
| XM_005267561.4:c.776C>T | XP_005267618.1:p.Thr259Met | |
| XM_005267563.4:c.164C>T | XP_005267620.1:p.Thr55Met | |
| XM_011536672.3:c.776C>T | XP_011534974.1:p.Thr259Met | |
| XM_011536673.2:c.626C>T | XP_011534975.1:p.Thr209Met | |
| XM_024449553.1:c.62C>T | XP_024305321.1:p.Thr21Met | |
| NM_001519.4:c.776C>T MANE Select | NP_001510.2:p.Thr259Met | |
| NM_001242788.2:c.695C>T | NP_001229717.1:p.Thr232Met | |
| NM_001242786.2:c.431C>T | NP_001229715.1:p.Thr144Met | |
| NM_001242787.2:c.431C>T | NP_001229716.1:p.Thr144Met | |
| NM_001242789.2:c.62C>T | NP_001229718.1:p.Thr21Met | |
| NM_145685.3:c.164C>T | NP_663718.1:p.Thr55Met |