Linked Data
ClinVar Variation Id:
350918
dbSNP Id:
rs770244453
ExAC:
5:13692151 G / T
gnomAD v2:
5-13692151-G-T
gnomAD v4:
5-13692042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692042G>T , CM000667.2:g.13692042G>T | GRCh38 |
| NC_000005.9:g.13692151G>T , CM000667.1:g.13692151G>T | GRCh37 |
| NC_000005.8:g.13745151G>T | NCBI36 |
| NG_013081.1:g.257439C>A | |
| NG_013081.2:g.257439C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1150C>A | ||
| ENST00000265104.5:c.13817C>A MANE Select | ENSP00000265104.4:p.Ala4606Asp | |
| ENST00000681290.1:c.13772C>A | ENSP00000505288.1:p.Ala4591Asp | |
| ENST00000265104.4:c.13817C>A | ENSP00000265104.4:p.Ala4606Asp | |
| NM_001369.2:c.13817C>A | NP_001360.1:p.Ala4606Asp | |
| XM_005248262.2:c.13772C>A | XP_005248319.1:p.Ala4591Asp | |
| XM_005248262.3:c.13925C>A | XP_005248319.2:p.Ala4642Asp | |
| XM_017009177.1:c.13505C>A | XP_016864666.1:p.Ala4502Asp | |
| XM_017009178.1:c.12830C>A | XP_016864667.1:p.Ala4277Asp | |
| XM_017009179.2:c.12830C>A | XP_016864668.1:p.Ala4277Asp | |
| XM_017009185.1:c.9014C>A | XP_016864674.1:p.Ala3005Asp | |
| XM_017009186.1:c.8567C>A | XP_016864675.1:p.Ala2856Asp | |
| XM_017009188.1:c.7904C>A | XP_016864677.1:p.Ala2635Asp | |
| XM_024454388.1:c.12830C>A | XP_024310156.1:p.Ala4277Asp | |
| XM_024454389.1:c.12419C>A | XP_024310157.1:p.Ala4140Asp | |
| NM_001369.3:c.13817C>A MANE Select | NP_001360.1:p.Ala4606Asp |