Linked Data
dbSNP Id:
rs763360696
ExAC:
5:13901438 T / G
gnomAD v2:
5-13901438-T-G
gnomAD v4:
5-13901329-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13901329T>G , CM000667.2:g.13901329T>G | GRCh38 |
| NC_000005.9:g.13901438T>G , CM000667.1:g.13901438T>G | GRCh37 |
| NC_000005.8:g.13954438T>G | NCBI36 |
| NG_013081.1:g.48152A>C | |
| NG_013081.2:g.48152A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.1975A>C MANE Select | ENSP00000265104.4:p.Ile659Leu | |
| ENST00000681290.1:c.1930A>C | ENSP00000505288.1:p.Ile644Leu | |
| ENST00000265104.4:c.1975A>C | ENSP00000265104.4:p.Ile659Leu | |
| NM_001369.2:c.1975A>C | NP_001360.1:p.Ile659Leu | |
| XM_005248262.2:c.1930A>C | XP_005248319.1:p.Ile644Leu | |
| XM_011513990.1:c.1975A>C | XP_011512292.1:p.Ile659Leu | |
| XR_925598.1:n.2182A>C | ||
| XM_005248262.3:c.2083A>C | XP_005248319.2:p.Ile695Leu | |
| XM_017009177.1:c.2083A>C | XP_016864666.1:p.Ile695Leu | |
| XM_017009178.1:c.988A>C | XP_016864667.1:p.Ile330Leu | |
| XM_017009179.2:c.988A>C | XP_016864668.1:p.Ile330Leu | |
| XM_017009180.1:c.2083A>C | XP_016864669.1:p.Ile695Leu | |
| XM_017009181.1:c.2083A>C | XP_016864670.1:p.Ile695Leu | |
| XM_017009182.1:c.2083A>C | XP_016864671.1:p.Ile695Leu | |
| XM_017009183.1:c.2083A>C | XP_016864672.1:p.Ile695Leu | |
| XM_017009184.1:c.2083A>C | XP_016864673.1:p.Ile695Leu | |
| XM_017009187.1:c.2083A>C | XP_016864676.1:p.Ile695Leu | |
| XM_024454388.1:c.988A>C | XP_024310156.1:p.Ile330Leu | |
| XM_024454389.1:c.577A>C | XP_024310157.1:p.Ile193Leu | |
| XR_001742034.1:n.2100A>C | ||
| XR_001742035.1:n.2100A>C | ||
| NM_001369.3:c.1975A>C MANE Select | NP_001360.1:p.Ile659Leu |