Linked Data
dbSNP Id:
rs374974632
gnomAD v2:
5-13692204-C-A
gnomAD v3:
5-13692095-C-A
gnomAD v4:
5-13692095-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692095C>A , CM000667.2:g.13692095C>A | GRCh38 |
| NC_000005.9:g.13692204C>A , CM000667.1:g.13692204C>A | GRCh37 |
| NC_000005.8:g.13745204C>A | NCBI36 |
| NG_013081.1:g.257386G>T | |
| NG_013081.2:g.257386G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1097G>T | ||
| ENST00000265104.5:c.13764G>T MANE Select | ENSP00000265104.4:p.Lys4588Asn | |
| ENST00000681290.1:c.13719G>T | ENSP00000505288.1:p.Lys4573Asn | |
| ENST00000265104.4:c.13764G>T | ENSP00000265104.4:p.Lys4588Asn | |
| NM_001369.2:c.13764G>T | NP_001360.1:p.Lys4588Asn | |
| XM_005248262.2:c.13719G>T | XP_005248319.1:p.Lys4573Asn | |
| XM_005248262.3:c.13872G>T | XP_005248319.2:p.Lys4624Asn | |
| XM_017009177.1:c.13452G>T | XP_016864666.1:p.Lys4484Asn | |
| XM_017009178.1:c.12777G>T | XP_016864667.1:p.Lys4259Asn | |
| XM_017009179.2:c.12777G>T | XP_016864668.1:p.Lys4259Asn | |
| XM_017009185.1:c.8961G>T | XP_016864674.1:p.Lys2987Asn | |
| XM_017009186.1:c.8514G>T | XP_016864675.1:p.Lys2838Asn | |
| XM_017009188.1:c.7851G>T | XP_016864677.1:p.Lys2617Asn | |
| XM_024454388.1:c.12777G>T | XP_024310156.1:p.Lys4259Asn | |
| XM_024454389.1:c.12366G>T | XP_024310157.1:p.Lys4122Asn | |
| NM_001369.3:c.13764G>T MANE Select | NP_001360.1:p.Lys4588Asn |