Linked Data
ClinVar Variation Id:
2769196
ClinVar RCV Id:
RCV003578642
MyVariant Identifiers:
chr17:g.73517565G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521484G>A , CM000679.2:g.75521484G>A | GRCh38 |
| NC_000017.10:g.73517565G>A , CM000679.1:g.73517565G>A | GRCh37 |
| NC_000017.9:g.71029160G>A | NCBI36 |
| NG_013041.1:g.9957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.597G>A MANE Select | ENSP00000327487.6:p.Lys199= | |
| ENST00000434205.8:c.294G>A | ENSP00000406559.4:p.Lys98= | |
| ENST00000545228.3:c.597G>A | ENSP00000438169.3:p.Lys199= | |
| ENST00000579449.2:n.396G>A | ||
| ENST00000580013.6:n.606G>A | ||
| ENST00000583818.2:c.651G>A | ENSP00000461928.2:n.651G>A | |
| ENST00000679370.1:n.984G>A | ||
| ENST00000679429.1:c.*55G>A | ENSP00000505403.1:n.*55G>A | |
| ENST00000679443.1:n.472G>A | ||
| ENST00000679782.1:c.597G>A | ENSP00000505995.1:p.Lys199= | |
| ENST00000679919.1:n.472G>A | ||
| ENST00000679928.1:c.*208G>A | ENSP00000506071.1:n.*208G>A | |
| ENST00000680528.1:n.622G>A | ||
| ENST00000680999.1:c.597G>A | ENSP00000504984.1:p.Lys199= | |
| ENST00000681282.1:c.597G>A | ENSP00000506339.1:p.Lys199= | |
| ENST00000333213.10:c.597G>A | ENSP00000327487.6:p.Lys199= | |
| ENST00000578415.1:c.557G>A | ||
| ENST00000583173.5:c.432G>A | ENSP00000463619.1:p.Lys144= | |
| ENST00000583818.1:c.546G>A | ENSP00000461928.1:n.546G>A | |
| NM_207346.2:c.597G>A | NP_997229.2:p.Lys199= | |
| XM_005257229.2:c.597G>A | XP_005257286.1:p.Lys199= | |
| XM_006721821.2:c.294G>A | XP_006721884.1:p.Lys98= | |
| XM_011524616.1:c.597G>A | XP_011522918.1:p.Lys199= | |
| XM_011524617.1:c.597G>A | XP_011522919.1:p.Lys199= | |
| XM_011524618.1:c.597G>A | XP_011522920.1:p.Lys199= | |
| XR_243646.2:n.627G>A | ||
| XM_005257229.4:c.597G>A | XP_005257286.1:p.Lys199= | |
| XR_243646.4:n.633G>A | ||
| NM_207346.3:c.597G>A MANE Select | NP_997229.2:p.Lys199= |