Linked Data
ClinVar Variation Id:
2802250
ClinVar RCV Id:
RCV003647522
dbSNP Id:
rs772086715
ExAC:
5:13692248 C / T
gnomAD v2:
5-13692248-C-T
gnomAD v4:
5-13692139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692139C>T , CM000667.2:g.13692139C>T | GRCh38 |
| NC_000005.9:g.13692248C>T , CM000667.1:g.13692248C>T | GRCh37 |
| NC_000005.8:g.13745248C>T | NCBI36 |
| NG_013081.1:g.257342G>A | |
| NG_013081.2:g.257342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1057-4G>A | ||
| ENST00000265104.5:c.13724-4G>A MANE Select | ENSP00000265104.4:n.13724-4G>A | |
| ENST00000681290.1:c.13679-4G>A | ENSP00000505288.1:n.13679-4G>A | |
| ENST00000265104.4:c.13724-4G>A | ENSP00000265104.4:n.13724-4G>A | |
| NM_001369.2:c.13724-4G>A | NP_001360.1:n.13724-4G>A | |
| XM_005248262.2:c.13679-4G>A | XP_005248319.1:n.13679-4G>A | |
| XM_005248262.3:c.13832-4G>A | XP_005248319.2:n.13832-4G>A | |
| XM_017009177.1:c.13412-4G>A | XP_016864666.1:n.13412-4G>A | |
| XM_017009178.1:c.12737-4G>A | XP_016864667.1:n.12737-4G>A | |
| XM_017009179.2:c.12737-4G>A | XP_016864668.1:n.12737-4G>A | |
| XM_017009185.1:c.8921-4G>A | XP_016864674.1:n.8921-4G>A | |
| XM_017009186.1:c.8474-4G>A | XP_016864675.1:n.8474-4G>A | |
| XM_017009188.1:c.7811-4G>A | XP_016864677.1:n.7811-4G>A | |
| XM_024454388.1:c.12737-4G>A | XP_024310156.1:n.12737-4G>A | |
| XM_024454389.1:c.12326-4G>A | XP_024310157.1:n.12326-4G>A | |
| NM_001369.3:c.13724-4G>A MANE Select | NP_001360.1:n.13724-4G>A |