Linked Data
dbSNP Id:
rs774184336
ExAC:
5:13753534 G / A
gnomAD v2:
5-13753534-G-A
gnomAD v4:
5-13753425-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753425G>A , CM000667.2:g.13753425G>A | GRCh38 |
| NC_000005.9:g.13753534G>A , CM000667.1:g.13753534G>A | GRCh37 |
| NC_000005.8:g.13806534G>A | NCBI36 |
| NG_013081.1:g.196056C>T | |
| NG_013081.2:g.196056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10680C>T MANE Select | ENSP00000265104.4:p.Asn3560= | |
| ENST00000681290.1:c.10635C>T | ENSP00000505288.1:p.Asn3545= | |
| ENST00000265104.4:c.10680C>T | ENSP00000265104.4:p.Asn3560= | |
| NM_001369.2:c.10680C>T | NP_001360.1:p.Asn3560= | |
| XM_005248262.2:c.10635C>T | XP_005248319.1:p.Asn3545= | |
| XM_005248262.3:c.10788C>T | XP_005248319.2:p.Asn3596= | |
| XM_017009177.1:c.10788C>T | XP_016864666.1:p.Asn3596= | |
| XM_017009178.1:c.9693C>T | XP_016864667.1:p.Asn3231= | |
| XM_017009179.2:c.9693C>T | XP_016864668.1:p.Asn3231= | |
| XM_017009180.1:c.10788C>T | XP_016864669.1:p.Asn3596= | |
| XM_017009181.1:c.10788C>T | XP_016864670.1:p.Asn3596= | |
| XM_017009182.1:c.10788C>T | XP_016864671.1:p.Asn3596= | |
| XM_017009185.1:c.5877C>T | XP_016864674.1:p.Asn1959= | |
| XM_017009186.1:c.5430C>T | XP_016864675.1:p.Asn1810= | |
| XM_017009188.1:c.4767C>T | XP_016864677.1:p.Asn1589= | |
| XM_024454388.1:c.9693C>T | XP_024310156.1:p.Asn3231= | |
| XM_024454389.1:c.9282C>T | XP_024310157.1:p.Asn3094= | |
| NM_001369.3:c.10680C>T MANE Select | NP_001360.1:p.Asn3560= |