Linked Data
ClinVar Variation Id:
1995261
ClinVar RCV Id:
RCV002796461
dbSNP Id:
rs1409148907
gnomAD v2:
5-13752293-G-A
gnomAD v4:
5-13752184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752184G>A , CM000667.2:g.13752184G>A | GRCh38 |
| NC_000005.9:g.13752293G>A , CM000667.1:g.13752293G>A | GRCh37 |
| NC_000005.8:g.13805293G>A | NCBI36 |
| NG_013081.1:g.197297C>T | |
| NG_013081.2:g.197297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10978C>T MANE Select | ENSP00000265104.4:p.Leu3660= | |
| ENST00000681290.1:c.10933C>T | ENSP00000505288.1:p.Leu3645= | |
| ENST00000265104.4:c.10978C>T | ENSP00000265104.4:p.Leu3660= | |
| NM_001369.2:c.10978C>T | NP_001360.1:p.Leu3660= | |
| XM_005248262.2:c.10933C>T | XP_005248319.1:p.Leu3645= | |
| XM_005248262.3:c.11086C>T | XP_005248319.2:p.Leu3696= | |
| XM_017009177.1:c.11086C>T | XP_016864666.1:p.Leu3696= | |
| XM_017009178.1:c.9991C>T | XP_016864667.1:p.Leu3331= | |
| XM_017009179.2:c.9991C>T | XP_016864668.1:p.Leu3331= | |
| XM_017009180.1:c.11086C>T | XP_016864669.1:p.Leu3696= | |
| XM_017009181.1:c.11086C>T | XP_016864670.1:p.Leu3696= | |
| XM_017009182.1:c.11086C>T | XP_016864671.1:p.Leu3696= | |
| XM_017009185.1:c.6175C>T | XP_016864674.1:p.Leu2059= | |
| XM_017009186.1:c.5728C>T | XP_016864675.1:p.Leu1910= | |
| XM_017009188.1:c.5065C>T | XP_016864677.1:p.Leu1689= | |
| XM_024454388.1:c.9991C>T | XP_024310156.1:p.Leu3331= | |
| XM_024454389.1:c.9580C>T | XP_024310157.1:p.Leu3194= | |
| NM_001369.3:c.10978C>T MANE Select | NP_001360.1:p.Leu3660= |