Linked Data
ClinVar Variation Id:
379701
ClinVar RCV Id:
RCV000421666
dbSNP Id:
rs1057520697
COSMIC:
COSM6101850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13820500C>A , CM000667.2:g.13820500C>A | GRCh38 |
| NC_000005.9:g.13820609C>A , CM000667.1:g.13820609C>A | GRCh37 |
| NC_000005.8:g.13873609C>A | NCBI36 |
| NG_013081.1:g.128981G>T | |
| NG_013081.2:g.128981G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683090.1:n.1619-1G>T | ||
| ENST00000265104.5:c.6688-1G>T MANE Select | ENSP00000265104.4:n.6688-1G>T | |
| ENST00000681290.1:c.6643-1G>T | ENSP00000505288.1:n.6643-1G>T | |
| ENST00000265104.4:c.6688-1G>T | ENSP00000265104.4:n.6688-1G>T | |
| NM_001369.2:c.6688-1G>T | NP_001360.1:n.6688-1G>T | |
| XM_005248262.2:c.6643-1G>T | XP_005248319.1:n.6643-1G>T | |
| XM_011513990.1:c.6688-1G>T | XP_011512292.1:n.6688-1G>T | |
| XR_925598.1:n.6895-1G>T | ||
| XM_005248262.3:c.6796-1G>T | XP_005248319.2:n.6796-1G>T | |
| XM_017009177.1:c.6796-1G>T | XP_016864666.1:n.6796-1G>T | |
| XM_017009178.1:c.5701-1G>T | XP_016864667.1:n.5701-1G>T | |
| XM_017009179.2:c.5701-1G>T | XP_016864668.1:n.5701-1G>T | |
| XM_017009180.1:c.6796-1G>T | XP_016864669.1:n.6796-1G>T | |
| XM_017009181.1:c.6796-1G>T | XP_016864670.1:n.6796-1G>T | |
| XM_017009182.1:c.6796-1G>T | XP_016864671.1:n.6796-1G>T | |
| XM_017009183.1:c.6796-1G>T | XP_016864672.1:n.6796-1G>T | |
| XM_017009184.1:c.6796-1G>T | XP_016864673.1:n.6796-1G>T | |
| XM_017009185.1:c.1885-1G>T | XP_016864674.1:n.1885-1G>T | |
| XM_017009186.1:c.1438-1G>T | XP_016864675.1:n.1438-1G>T | |
| XM_017009187.1:c.6796-1G>T | XP_016864676.1:n.6796-1G>T | |
| XM_017009188.1:c.775-1G>T | XP_016864677.1:n.775-1G>T | |
| XM_024454388.1:c.5701-1G>T | XP_024310156.1:n.5701-1G>T | |
| XM_024454389.1:c.5290-1G>T | XP_024310157.1:n.5290-1G>T | |
| XR_001742034.1:n.6813-1G>T | ||
| XR_001742035.1:n.6813-1G>T | ||
| NM_001369.3:c.6688-1G>T MANE Select | NP_001360.1:n.6688-1G>T |