Linked Data
dbSNP Id:
rs754404915
ExAC:
9:120475417 A / C
gnomAD v2:
9-120475417-A-C
gnomAD v4:
9-117713139-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713139A>C , CM000671.2:g.117713139A>C | GRCh38 |
| NC_000009.11:g.120475417A>C , CM000671.1:g.120475417A>C | GRCh37 |
| NC_000009.10:g.119515238A>C | NCBI36 |
| NG_011475.1:g.13958A>C | |
| NG_011475.2:g.13737A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+8574A>C | ENSP00000496197.1:n.93+8574A>C | |
| ENST00000697624.1:n.200+8574A>C | ||
| ENST00000697625.1:c.93+8574A>C | ENSP00000513362.1:n.93+8574A>C | |
| ENST00000697636.1:c.93+8574A>C | ENSP00000513366.1:n.93+8574A>C | |
| ENST00000697637.1:c.93+8574A>C | ENSP00000513367.1:n.93+8574A>C | |
| ENST00000697664.1:c.140+4410A>C | ENSP00000513389.1:n.140+4410A>C | |
| ENST00000697665.1:c.93+8574A>C | ENSP00000513390.1:n.93+8574A>C | |
| ENST00000697666.1:c.140+4410A>C | ENSP00000513391.1:n.140+4410A>C | |
| ENST00000355622.8:c.1011A>C MANE Select | ENSP00000363089.5:p.Leu337Phe | |
| ENST00000394487.5:c.891A>C | ENSP00000377997.4:p.Leu297Phe | |
| ENST00000472304.2:c.*745A>C | ENSP00000496429.1:n.*745A>C | |
| ENST00000642985.1:c.260+4410A>C | ENSP00000493686.1:n.260+4410A>C | |
| ENST00000646089.1:c.93+8574A>C | ENSP00000496197.1:n.93+8574A>C | |
| ENST00000665764.1:c.93+8574A>C | ENSP00000499745.1:n.93+8574A>C | |
| ENST00000355622.6:c.1011A>C | ENSP00000363089.5:p.Leu337Phe | |
| ENST00000394487.4:c.891A>C | ENSP00000377997.4:p.Leu297Phe | |
| ENST00000472304.1:n.928A>C | ||
| NM_003266.3:c.891A>C | NP_003257.1:p.Leu297Phe | |
| NM_138554.4:c.1011A>C | NP_612564.1:p.Leu337Phe | |
| NM_138557.2:c.411A>C | NP_612567.1:p.Leu137Phe | |
| NM_138554.5:c.1011A>C MANE Select | NP_612564.1:p.Leu337Phe | |
| NM_003266.4:c.891A>C | NP_003257.1:p.Leu297Phe | |
| NM_138557.3:c.411A>C | NP_612567.1:p.Leu137Phe |