Linked Data
ClinVar Variation Id:
214991
ClinVar RCV Id:
RCV000199611
dbSNP Id:
rs143549737
ExAC:
6:107780215 T / G
gnomAD v2:
6-107780215-T-G
gnomAD v3:
6-107459011-T-G
gnomAD v4:
6-107459011-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107459011T>G , CM000668.2:g.107459011T>G | GRCh38 |
| NC_000006.11:g.107780215T>G , CM000668.1:g.107780215T>G | GRCh37 |
| NC_000006.10:g.107886908T>G | NCBI36 |
| NG_013033.1:g.5565A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369037.9:c.275A>C MANE Select | ENSP00000358033.4:p.His92Pro | |
| ENST00000369031.4:c.275A>C | ENSP00000358027.4:p.His92Pro | |
| ENST00000369037.8:c.275A>C | ENSP00000358033.4:p.His92Pro | |
| NM_020381.3:c.275A>C | NP_065114.3:p.His92Pro | |
| XM_011535956.1:c.275A>C | XP_011534258.1:p.His92Pro | |
| XM_011535957.1:c.275A>C | XP_011534259.1:p.His92Pro | |
| XM_011535958.1:c.275A>C | XP_011534260.1:p.His92Pro | |
| XM_011535959.1:c.275A>C | XP_011534261.1:p.His92Pro | |
| XM_011535960.1:c.-113+357A>C | XP_011534262.1:n.-113+357A>C | |
| XM_011535961.1:c.275A>C | XP_011534263.1:p.His92Pro | |
| XM_011535962.1:c.-113+357A>C | XP_011534264.1:n.-113+357A>C | |
| XM_011535963.1:c.275A>C | XP_011534265.1:p.His92Pro | |
| XM_011535956.3:c.275A>C | XP_011534258.1:p.His92Pro | |
| XM_011535957.3:c.275A>C | XP_011534259.1:p.His92Pro | |
| XM_011535958.3:c.275A>C | XP_011534260.1:p.His92Pro | |
| XM_011535959.3:c.275A>C | XP_011534261.1:p.His92Pro | |
| XM_011535960.3:c.-113+357A>C | XP_011534262.1:n.-113+357A>C | |
| XM_011535961.3:c.275A>C | XP_011534263.1:p.His92Pro | |
| XM_011535962.2:c.-113+357A>C | XP_011534264.1:n.-113+357A>C | |
| XM_011535963.3:c.275A>C | XP_011534265.1:p.His92Pro | |
| XM_017011082.2:c.275A>C | XP_016866571.1:p.His92Pro | |
| NM_020381.4:c.275A>C MANE Select | NP_065114.3:p.His92Pro |