Linked Data
ClinVar Variation Id:
2576850
ClinVar RCV Id:
RCV003323155
dbSNP Id:
rs782462161
ExAC:
X:54228569 T / G
gnomAD v3:
X-54202136-T-G
gnomAD v4:
X-54202136-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54202136T>G , CM000685.2:g.54202136T>G | GRCh38 |
| NC_000023.10:g.54228569T>G , CM000685.1:g.54228569T>G | GRCh37 |
| NC_000023.9:g.54245294T>G | NCBI36 |
| NG_021259.1:g.160870A>C | |
| NG_021259.2:g.160870A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354646.7:c.4928A>C MANE Select | ENSP00000346667.2:p.Lys1643Thr | |
| ENST00000354646.6:c.4928A>C | ENSP00000346667.2:p.Lys1643Thr | |
| ENST00000375159.6:c.4928A>C | ENSP00000364301.2:p.Lys1643Thr | |
| ENST00000375169.7:c.4757A>C | ENSP00000364312.3:p.Lys1586Thr | |
| ENST00000620763.1:c.4925A>C | ENSP00000481888.1:p.Lys1642Thr | |
| NM_001002838.3:c.4757A>C | NP_001002838.1:p.Lys1586Thr | |
| NM_020922.4:c.4928A>C | NP_065973.2:p.Lys1643Thr | |
| XM_006724593.2:c.4757A>C | XP_006724656.1:p.Lys1586Thr | |
| XM_011530802.1:c.4787A>C | XP_011529104.1:p.Lys1596Thr | |
| XM_011530803.1:c.4787A>C | XP_011529105.1:p.Lys1596Thr | |
| XM_011530804.1:c.4787A>C | XP_011529106.1:p.Lys1596Thr | |
| XM_011530805.1:c.4787A>C | XP_011529107.1:p.Lys1596Thr | |
| XM_011530806.1:c.4787A>C | XP_011529108.1:p.Lys1596Thr | |
| XM_011530807.1:c.2753A>C | XP_011529109.1:p.Lys918Thr | |
| XM_006724593.3:c.4757A>C | XP_006724656.1:p.Lys1586Thr | |
| XM_011530802.2:c.4787A>C | XP_011529104.1:p.Lys1596Thr | |
| XM_017029741.1:c.4928A>C | XP_016885230.1:p.Lys1643Thr | |
| XM_017029742.1:c.4928A>C | XP_016885231.1:p.Lys1643Thr | |
| XM_017029743.1:c.4928A>C | XP_016885232.1:p.Lys1643Thr | |
| XM_017029744.1:c.4928A>C | XP_016885233.1:p.Lys1643Thr | |
| XM_017029745.1:c.4898A>C | XP_016885234.1:p.Lys1633Thr | |
| NM_001002838.4:c.4757A>C | NP_001002838.1:p.Lys1586Thr | |
| NM_020922.5:c.4928A>C MANE Select | NP_065973.2:p.Lys1643Thr | |
| NM_001395166.1:c.4757A>C | NP_001382095.1:p.Lys1586Thr |