Linked Data
dbSNP Id:
rs1458305119
gnomAD v2:
6-31918465-A-C
gnomAD v3:
6-31950688-A-C
gnomAD v4:
6-31950688-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950688A>C , CM000668.2:g.31950688A>C | GRCh38 |
| NC_000006.11:g.31918465A>C , CM000668.1:g.31918465A>C | GRCh37 |
| NC_000006.10:g.32026444A>C | NCBI36 |
| NG_008191.1:g.9745A>C , LRG_136:g.9745A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2086A>C | ||
| ENST00000483004.2:c.1478A>C | ENSP00000419887.2:p.Lys493Thr | |
| ENST00000698628.1:c.1624+285A>C | ENSP00000513848.1:n.1624+285A>C | |
| ENST00000698629.1:n.1871A>C | ||
| ENST00000698630.1:n.2410A>C | ||
| ENST00000698631.1:n.2411A>C | ||
| ENST00000698632.1:n.3205A>C | ||
| ENST00000698633.1:n.3095A>C | ||
| ENST00000698636.1:n.1916A>C | ||
| ENST00000425368.7:c.1694A>C MANE Select | ENSP00000416561.2:p.Lys565Thr | |
| ENST00000425368.6:c.1694A>C | ENSP00000416561.2:p.Lys565Thr | |
| ENST00000456570.5:c.3200A>C | ENSP00000410815.1:p.Lys1067Thr | |
| ENST00000467360.1:n.820A>C | ||
| ENST00000477310.1:c.2747A>C | ENSP00000418996.1:p.Lys916Thr | |
| ENST00000483004.1:c.316A>C | ||
| NM_001710.5:c.1694A>C , LRG_136t1:c.1694A>C | NP_001701.2:p.Lys565Thr | |
| NM_001710.6:c.1694A>C MANE Select | NP_001701.2:p.Lys565Thr |