Linked Data
dbSNP Id:
rs760482011
gnomAD v3:
5-13692079-C-T
gnomAD v4:
5-13692079-C-T
COSMIC:
COSM3608774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692079C>T , CM000667.2:g.13692079C>T | GRCh38 |
| NC_000005.9:g.13692188C>T , CM000667.1:g.13692188C>T | GRCh37 |
| NC_000005.8:g.13745188C>T | NCBI36 |
| NG_013081.1:g.257402G>A | |
| NG_013081.2:g.257402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1113G>A | ||
| ENST00000265104.5:c.13780G>A MANE Select | ENSP00000265104.4:p.Asp4594Asn | |
| ENST00000681290.1:c.13735G>A | ENSP00000505288.1:p.Asp4579Asn | |
| ENST00000265104.4:c.13780G>A | ENSP00000265104.4:p.Asp4594Asn | |
| NM_001369.2:c.13780G>A | NP_001360.1:p.Asp4594Asn | |
| XM_005248262.2:c.13735G>A | XP_005248319.1:p.Asp4579Asn | |
| XM_005248262.3:c.13888G>A | XP_005248319.2:p.Asp4630Asn | |
| XM_017009177.1:c.13468G>A | XP_016864666.1:p.Asp4490Asn | |
| XM_017009178.1:c.12793G>A | XP_016864667.1:p.Asp4265Asn | |
| XM_017009179.2:c.12793G>A | XP_016864668.1:p.Asp4265Asn | |
| XM_017009185.1:c.8977G>A | XP_016864674.1:p.Asp2993Asn | |
| XM_017009186.1:c.8530G>A | XP_016864675.1:p.Asp2844Asn | |
| XM_017009188.1:c.7867G>A | XP_016864677.1:p.Asp2623Asn | |
| XM_024454388.1:c.12793G>A | XP_024310156.1:p.Asp4265Asn | |
| XM_024454389.1:c.12382G>A | XP_024310157.1:p.Asp4128Asn | |
| NM_001369.3:c.13780G>A MANE Select | NP_001360.1:p.Asp4594Asn |