Linked Data
ClinVar Variation Id:
238990
dbSNP Id:
rs192262838
ExAC:
5:13769653 G / A
gnomAD v2:
5-13769653-G-A
gnomAD v3:
5-13769544-G-A
gnomAD v4:
5-13769544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769544G>A , CM000667.2:g.13769544G>A | GRCh38 |
| NC_000005.9:g.13769653G>A , CM000667.1:g.13769653G>A | GRCh37 |
| NC_000005.8:g.13822653G>A | NCBI36 |
| NG_013081.1:g.179937C>T | |
| NG_013081.2:g.179937C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.9677C>T MANE Select | ENSP00000265104.4:p.Ala3226Val | |
| ENST00000681290.1:c.9632C>T | ENSP00000505288.1:p.Ala3211Val | |
| ENST00000265104.4:c.9677C>T | ENSP00000265104.4:p.Ala3226Val | |
| ENST00000504001.3:n.389C>T | ||
| NM_001369.2:c.9677C>T | NP_001360.1:p.Ala3226Val | |
| XM_005248262.2:c.9632C>T | XP_005248319.1:p.Ala3211Val | |
| XM_005248262.3:c.9785C>T | XP_005248319.2:p.Ala3262Val | |
| XM_017009177.1:c.9785C>T | XP_016864666.1:p.Ala3262Val | |
| XM_017009178.1:c.8690C>T | XP_016864667.1:p.Ala2897Val | |
| XM_017009179.2:c.8690C>T | XP_016864668.1:p.Ala2897Val | |
| XM_017009180.1:c.9785C>T | XP_016864669.1:p.Ala3262Val | |
| XM_017009181.1:c.9785C>T | XP_016864670.1:p.Ala3262Val | |
| XM_017009182.1:c.9785C>T | XP_016864671.1:p.Ala3262Val | |
| XM_017009185.1:c.4874C>T | XP_016864674.1:p.Ala1625Val | |
| XM_017009186.1:c.4427C>T | XP_016864675.1:p.Ala1476Val | |
| XM_017009188.1:c.3764C>T | XP_016864677.1:p.Ala1255Val | |
| XM_024454388.1:c.8690C>T | XP_024310156.1:p.Ala2897Val | |
| XM_024454389.1:c.8279C>T | XP_024310157.1:p.Ala2760Val | |
| NM_001369.3:c.9677C>T MANE Select | NP_001360.1:p.Ala3226Val |