Linked Data
ClinVar Variation Id:
238958
ClinVar RCV Id:
RCV000229667
dbSNP Id:
rs140284455
ExAC:
5:13719115 C / T
gnomAD v2:
5-13719115-C-T
gnomAD v3:
5-13719006-C-T
gnomAD v4:
5-13719006-C-T
COSMIC:
COSM735600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13719006C>T , CM000667.2:g.13719006C>T | GRCh38 |
| NC_000005.9:g.13719115C>T , CM000667.1:g.13719115C>T | GRCh37 |
| NC_000005.8:g.13772115C>T | NCBI36 |
| NG_013081.1:g.230475G>A | |
| NG_013081.2:g.230475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12375G>A MANE Select | ENSP00000265104.4:p.Ala4125= | |
| ENST00000681290.1:c.12330G>A | ENSP00000505288.1:p.Ala4110= | |
| ENST00000265104.4:c.12375G>A | ENSP00000265104.4:p.Ala4125= | |
| NM_001369.2:c.12375G>A | NP_001360.1:p.Ala4125= | |
| XM_005248262.2:c.12330G>A | XP_005248319.1:p.Ala4110= | |
| XM_005248262.3:c.12483G>A | XP_005248319.2:p.Ala4161= | |
| XM_017009177.1:c.12483G>A | XP_016864666.1:p.Ala4161= | |
| XM_017009178.1:c.11388G>A | XP_016864667.1:p.Ala3796= | |
| XM_017009179.2:c.11388G>A | XP_016864668.1:p.Ala3796= | |
| XM_017009180.1:c.12483G>A | XP_016864669.1:p.Ala4161= | |
| XM_017009185.1:c.7572G>A | XP_016864674.1:p.Ala2524= | |
| XM_017009186.1:c.7125G>A | XP_016864675.1:p.Ala2375= | |
| XM_017009188.1:c.6462G>A | XP_016864677.1:p.Ala2154= | |
| XM_024454388.1:c.11388G>A | XP_024310156.1:p.Ala3796= | |
| XM_024454389.1:c.10977G>A | XP_024310157.1:p.Ala3659= | |
| NM_001369.3:c.12375G>A MANE Select | NP_001360.1:p.Ala4125= |