Linked Data
ClinVar Variation Id:
919718
dbSNP Id:
rs1827279899
gnomAD v4:
9-99132694-T-C
MyVariant Identifiers:
chr9:g.101894976T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99132694T>C , CM000671.2:g.99132694T>C | GRCh38 |
| NC_000009.11:g.101894976T>C , CM000671.1:g.101894976T>C | GRCh37 |
| NC_000009.10:g.100934797T>C | NCBI36 |
| NG_007461.1:g.32565T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.322T>C | ENSP00000449934.2:p.Leu108= | |
| ENST00000552573.7:c.334T>C | ENSP00000447182.3:p.Leu112= | |
| ENST00000548365.6:c.334T>C | ENSP00000448518.2:p.Leu112= | |
| ENST00000549021.6:c.136+3594T>C | ENSP00000449028.2:n.136+3594T>C | |
| ENST00000698941.1:c.334T>C | ENSP00000514048.1:p.Leu112= | |
| ENST00000698942.1:c.*325T>C | ENSP00000514049.1:n.*325T>C | |
| ENST00000374994.9:c.529T>C MANE Select | ENSP00000364133.4:p.Leu177= | |
| ENST00000374990.6:c.343+3594T>C | ENSP00000364129.2:n.343+3594T>C | |
| ENST00000374994.8:c.529T>C | ENSP00000364133.4:p.Leu177= | |
| ENST00000546584.1:c.322T>C | ENSP00000447707.2:p.Leu108= | |
| ENST00000547314.5:c.322T>C | ENSP00000449934.1:p.Leu108= | |
| ENST00000548365.5:c.334T>C | ENSP00000448518.1:p.Leu112= | |
| ENST00000549021.5:c.136+3594T>C | ENSP00000449028.1:n.136+3594T>C | |
| ENST00000549766.5:c.541T>C | ENSP00000446685.1:p.Leu181= | |
| ENST00000550253.1:c.322T>C | ENSP00000450052.1:p.Leu108= | |
| ENST00000552516.5:c.541T>C | ENSP00000447297.1:p.Leu181= | |
| ENST00000552573.6:c.334T>C | ENSP00000447182.2:p.Leu112= | |
| NM_001130916.1:c.343+3594T>C | NP_001124388.1:n.343+3594T>C | |
| NM_001130916.2:c.343+3594T>C | NP_001124388.1:n.343+3594T>C | |
| NM_001306210.1:c.541T>C | NP_001293139.1:p.Leu181= | |
| NM_004612.2:c.529T>C | NP_004603.1:p.Leu177= | |
| NM_004612.3:c.529T>C | NP_004603.1:p.Leu177= | |
| XM_011518948.1:c.334T>C | XP_011517250.1:p.Leu112= | |
| XM_011518949.1:c.322T>C | XP_011517251.1:p.Leu108= | |
| XM_011518950.1:c.136+3594T>C | XP_011517252.1:n.136+3594T>C | |
| XM_011518948.2:c.334T>C | XP_011517250.1:p.Leu112= | |
| XM_011518949.2:c.322T>C | XP_011517251.1:p.Leu108= | |
| XM_011518950.2:c.136+3594T>C | XP_011517252.1:n.136+3594T>C | |
| XM_017015063.1:c.334T>C | XP_016870552.1:p.Leu112= | |
| XM_024447658.1:c.322T>C | XP_024303426.1:p.Leu108= | |
| NM_004612.4:c.529T>C MANE Select | NP_004603.1:p.Leu177= | |
| NM_001130916.3:c.343+3594T>C | NP_001124388.1:n.343+3594T>C | |
| NM_001306210.2:c.541T>C | NP_001293139.1:p.Leu181= |