Linked Data
ClinVar Variation Id:
2538
ClinVar RCV Id:
RCV000002647
RCV000216751
RCV000735306
RCV000735284
RCV000763381
RCV001028046
RCV001197704
RCV001535935
RCV002415387
RCV002262539
RCV003325449
RCV003335011
dbSNP Id:
rs61752717
ExAC:
16:3293407 T / C
gnomAD v2:
16-3293407-T-C
gnomAD v3:
16-3243407-T-C
gnomAD v4:
16-3243407-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243407T>C , CM000678.2:g.3243407T>C | GRCh38 |
| NC_000016.9:g.3293407T>C , CM000678.1:g.3293407T>C | GRCh37 |
| NC_000016.8:g.3233408T>C | NCBI36 |
| NG_007871.1:g.18221A>G , LRG_190:g.18221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1201A>G | ||
| ENST00000219596.6:c.2080A>G MANE Select | ENSP00000219596.1:p.Met694Val | |
| ENST00000219596.5:c.2080A>G | ENSP00000219596.1:p.Met694Val | |
| ENST00000339854.8:c.1540A>G | ENSP00000339639.4:p.Met514Val | |
| ENST00000536379.5:c.1447A>G | ENSP00000445079.1:p.Met483Val | |
| ENST00000536980.5:c.*356A>G | ENSP00000444178.1:n.*356A>G | |
| ENST00000537682.5:c.*356A>G | ENSP00000438611.1:n.*356A>G | |
| ENST00000538326.5:c.*705A>G | ENSP00000437486.1:n.*705A>G | |
| ENST00000539145.5:c.1001A>G | ENSP00000444471.1:n.1001A>G | |
| ENST00000541159.5:c.1622A>G | ENSP00000438711.1:n.1622A>G | |
| ENST00000542898.5:c.*356A>G | ENSP00000444615.1:n.*356A>G | |
| ENST00000570511.5:c.1485A>G | ENSP00000458312.1:n.1485A>G | |
| ENST00000572244.5:c.770A>G | ENSP00000461186.1:n.770A>G | |
| ENST00000574583.5:c.852A>G | ENSP00000460269.1:n.852A>G | |
| ENST00000576315.5:c.885A>G | ENSP00000460551.1:n.885A>G | |
| ENST00000621655.1:c.1617A>G | ENSP00000481436.1:n.1617A>G | |
| NM_000243.2:c.2080A>G , LRG_190t1:c.2080A>G | NP_000234.1:p.Met694Val | |
| NM_001198536.1:c.*284A>G | NP_001185465.1:n.*284A>G | |
| XM_017023236.2:c.2077A>G | XP_016878725.1:p.Met693Val | |
| NM_000243.3:c.2080A>G MANE Select | NP_000234.1:p.Met694Val | |
| NM_001198536.2:c.*284A>G | NP_001185465.2:n.*284A>G |