Linked Data
ClinVar Variation Id:
1614031
ClinVar RCV Id:
RCV002173678
dbSNP Id:
rs1238800897
gnomAD v2:
5-13752285-A-G
gnomAD v4:
5-13752176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752176A>G , CM000667.2:g.13752176A>G | GRCh38 |
| NC_000005.9:g.13752285A>G , CM000667.1:g.13752285A>G | GRCh37 |
| NC_000005.8:g.13805285A>G | NCBI36 |
| NG_013081.1:g.197305T>C | |
| NG_013081.2:g.197305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10986T>C MANE Select | ENSP00000265104.4:p.Asn3662= | |
| ENST00000681290.1:c.10941T>C | ENSP00000505288.1:p.Asn3647= | |
| ENST00000265104.4:c.10986T>C | ENSP00000265104.4:p.Asn3662= | |
| NM_001369.2:c.10986T>C | NP_001360.1:p.Asn3662= | |
| XM_005248262.2:c.10941T>C | XP_005248319.1:p.Asn3647= | |
| XM_005248262.3:c.11094T>C | XP_005248319.2:p.Asn3698= | |
| XM_017009177.1:c.11094T>C | XP_016864666.1:p.Asn3698= | |
| XM_017009178.1:c.9999T>C | XP_016864667.1:p.Asn3333= | |
| XM_017009179.2:c.9999T>C | XP_016864668.1:p.Asn3333= | |
| XM_017009180.1:c.11094T>C | XP_016864669.1:p.Asn3698= | |
| XM_017009181.1:c.11094T>C | XP_016864670.1:p.Asn3698= | |
| XM_017009182.1:c.11094T>C | XP_016864671.1:p.Asn3698= | |
| XM_017009185.1:c.6183T>C | XP_016864674.1:p.Asn2061= | |
| XM_017009186.1:c.5736T>C | XP_016864675.1:p.Asn1912= | |
| XM_017009188.1:c.5073T>C | XP_016864677.1:p.Asn1691= | |
| XM_024454388.1:c.9999T>C | XP_024310156.1:p.Asn3333= | |
| XM_024454389.1:c.9588T>C | XP_024310157.1:p.Asn3196= | |
| NM_001369.3:c.10986T>C MANE Select | NP_001360.1:p.Asn3662= |