Linked Data
dbSNP Id:
rs769937157
ExAC:
6:79752692 A / G
gnomAD v2:
6-79752692-A-G
gnomAD v3:
6-79042975-A-G
gnomAD v4:
6-79042975-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79042975A>G , CM000668.2:g.79042975A>G | GRCh38 |
| NC_000006.11:g.79752692A>G , CM000668.1:g.79752692A>G | GRCh37 |
| NC_000006.10:g.79809411A>G | NCBI36 |
| NG_051932.1:g.40324T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700012.1:c.486T>C | ENSP00000514753.1:p.Asn162= | |
| ENST00000700013.1:c.486T>C | ENSP00000514754.1:p.Asn162= | |
| ENST00000700114.1:c.408T>C | ENSP00000514808.1:p.Asn136= | |
| ENST00000700115.1:c.468T>C | ENSP00000514809.1:p.Asn156= | |
| ENST00000700118.1:c.468T>C | ENSP00000514810.1:p.Asn156= | |
| ENST00000700119.1:c.*279T>C | ENSP00000514811.1:n.*279T>C | |
| ENST00000700120.1:n.396T>C | ||
| ENST00000275034.5:c.468T>C MANE Select | ENSP00000275034.3:p.Asn156= | |
| ENST00000275034.4:c.468T>C | ENSP00000275034.3:p.Asn156= | |
| NM_017934.5:c.468T>C | NP_060404.3:p.Asn156= | |
| XM_005248729.3:c.468T>C | XP_005248786.1:p.Asn156= | |
| XM_011535917.1:c.468T>C | XP_011534219.1:p.Asn156= | |
| XM_011535918.1:c.-49T>C | XP_011534220.1:n.-49T>C | |
| XM_011535919.1:c.468T>C | XP_011534221.1:p.Asn156= | |
| XR_942499.1:n.694T>C | ||
| NM_017934.6:c.468T>C | NP_060404.4:p.Asn156= | |
| XM_005248729.5:c.468T>C | XP_005248786.1:p.Asn156= | |
| XM_011535918.3:c.-49T>C | XP_011534220.1:n.-49T>C | |
| XM_017010989.2:c.-1262T>C | XP_016866478.1:n.-1262T>C | |
| XM_017010990.2:c.-1262T>C | XP_016866479.1:n.-1262T>C | |
| NM_017934.7:c.468T>C MANE Select | NP_060404.4:p.Asn156= |