Linked Data
dbSNP Id:
rs1216089367
gnomAD v2:
5-13692166-A-G
gnomAD v3:
5-13692057-A-G
gnomAD v4:
5-13692057-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692057A>G , CM000667.2:g.13692057A>G | GRCh38 |
| NC_000005.9:g.13692166A>G , CM000667.1:g.13692166A>G | GRCh37 |
| NC_000005.8:g.13745166A>G | NCBI36 |
| NG_013081.1:g.257424T>C | |
| NG_013081.2:g.257424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1135T>C | ||
| ENST00000265104.5:c.13802T>C MANE Select | ENSP00000265104.4:p.Val4601Ala | |
| ENST00000681290.1:c.13757T>C | ENSP00000505288.1:p.Val4586Ala | |
| ENST00000265104.4:c.13802T>C | ENSP00000265104.4:p.Val4601Ala | |
| NM_001369.2:c.13802T>C | NP_001360.1:p.Val4601Ala | |
| XM_005248262.2:c.13757T>C | XP_005248319.1:p.Val4586Ala | |
| XM_005248262.3:c.13910T>C | XP_005248319.2:p.Val4637Ala | |
| XM_017009177.1:c.13490T>C | XP_016864666.1:p.Val4497Ala | |
| XM_017009178.1:c.12815T>C | XP_016864667.1:p.Val4272Ala | |
| XM_017009179.2:c.12815T>C | XP_016864668.1:p.Val4272Ala | |
| XM_017009185.1:c.8999T>C | XP_016864674.1:p.Val3000Ala | |
| XM_017009186.1:c.8552T>C | XP_016864675.1:p.Val2851Ala | |
| XM_017009188.1:c.7889T>C | XP_016864677.1:p.Val2630Ala | |
| XM_024454388.1:c.12815T>C | XP_024310156.1:p.Val4272Ala | |
| XM_024454389.1:c.12404T>C | XP_024310157.1:p.Val4135Ala | |
| NM_001369.3:c.13802T>C MANE Select | NP_001360.1:p.Val4601Ala |