Linked Data
ClinVar Variation Id:
97487
ClinVar RCV Id:
RCV000083739
dbSNP Id:
rs61752717
gnomAD v4:
16-3243407-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243407T>A , CM000678.2:g.3243407T>A | GRCh38 |
| NC_000016.9:g.3293407T>A , CM000678.1:g.3293407T>A | GRCh37 |
| NC_000016.8:g.3233408T>A | NCBI36 |
| NG_007871.1:g.18221A>T , LRG_190:g.18221A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1201A>T | ||
| ENST00000219596.6:c.2080A>T MANE Select | ENSP00000219596.1:p.Met694Leu | |
| ENST00000219596.5:c.2080A>T | ENSP00000219596.1:p.Met694Leu | |
| ENST00000339854.8:c.1540A>T | ENSP00000339639.4:p.Met514Leu | |
| ENST00000536379.5:c.1447A>T | ENSP00000445079.1:p.Met483Leu | |
| ENST00000536980.5:c.*356A>T | ENSP00000444178.1:n.*356A>T | |
| ENST00000537682.5:c.*356A>T | ENSP00000438611.1:n.*356A>T | |
| ENST00000538326.5:c.*705A>T | ENSP00000437486.1:n.*705A>T | |
| ENST00000539145.5:c.1001A>T | ENSP00000444471.1:n.1001A>T | |
| ENST00000541159.5:c.1622A>T | ENSP00000438711.1:n.1622A>T | |
| ENST00000542898.5:c.*356A>T | ENSP00000444615.1:n.*356A>T | |
| ENST00000570511.5:c.1485A>T | ENSP00000458312.1:n.1485A>T | |
| ENST00000572244.5:c.770A>T | ENSP00000461186.1:n.770A>T | |
| ENST00000574583.5:c.852A>T | ENSP00000460269.1:n.852A>T | |
| ENST00000576315.5:c.885A>T | ENSP00000460551.1:n.885A>T | |
| ENST00000621655.1:c.1617A>T | ENSP00000481436.1:n.1617A>T | |
| NM_000243.2:c.2080A>T , LRG_190t1:c.2080A>T | NP_000234.1:p.Met694Leu | |
| NM_001198536.1:c.*284A>T | NP_001185465.1:n.*284A>T | |
| XM_017023236.2:c.2077A>T | XP_016878725.1:p.Met693Leu | |
| NM_000243.3:c.2080A>T MANE Select | NP_000234.1:p.Met694Leu | |
| NM_001198536.2:c.*284A>T | NP_001185465.2:n.*284A>T |