Linked Data
ClinVar Variation Id:
1262611
ClinVar RCV Id:
RCV001669844
dbSNP Id:
rs1995390
gnomAD v2:
5-13771249-A-G
gnomAD v3:
5-13771140-A-G
gnomAD v4:
5-13771140-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13771140A>G , CM000667.2:g.13771140A>G | GRCh38 |
| NC_000005.9:g.13771249A>G , CM000667.1:g.13771249A>G | GRCh37 |
| NC_000005.8:g.13824249A>G | NCBI36 |
| NG_013081.1:g.178341T>C | |
| NG_013081.2:g.178341T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9374-160T>C MANE Select | ENSP00000265104.4:n.9374-160T>C | |
| ENST00000681290.1:c.9329-160T>C | ENSP00000505288.1:n.9329-160T>C | |
| ENST00000265104.4:c.9374-160T>C | ENSP00000265104.4:n.9374-160T>C | |
| ENST00000504001.3:n.85+58T>C | ||
| NM_001369.2:c.9374-160T>C | NP_001360.1:n.9374-160T>C | |
| XM_005248262.2:c.9329-160T>C | XP_005248319.1:n.9329-160T>C | |
| XM_005248262.3:c.9482-160T>C | XP_005248319.2:n.9482-160T>C | |
| XM_017009177.1:c.9482-160T>C | XP_016864666.1:n.9482-160T>C | |
| XM_017009178.1:c.8387-160T>C | XP_016864667.1:n.8387-160T>C | |
| XM_017009179.2:c.8387-160T>C | XP_016864668.1:n.8387-160T>C | |
| XM_017009180.1:c.9482-160T>C | XP_016864669.1:n.9482-160T>C | |
| XM_017009181.1:c.9482-160T>C | XP_016864670.1:n.9482-160T>C | |
| XM_017009182.1:c.9482-160T>C | XP_016864671.1:n.9482-160T>C | |
| XM_017009183.1:c.9482-160T>C | XP_016864672.1:n.9482-160T>C | |
| XM_017009185.1:c.4571-160T>C | XP_016864674.1:n.4571-160T>C | |
| XM_017009186.1:c.4124-160T>C | XP_016864675.1:n.4124-160T>C | |
| XM_017009188.1:c.3461-160T>C | XP_016864677.1:n.3461-160T>C | |
| XM_024454388.1:c.8387-160T>C | XP_024310156.1:n.8387-160T>C | |
| XM_024454389.1:c.7976-160T>C | XP_024310157.1:n.7976-160T>C | |
| NM_001369.3:c.9374-160T>C MANE Select | NP_001360.1:n.9374-160T>C |