Linked Data
gnomAD v3:
6-136872203-A-T
gnomAD v4:
6-136872203-A-T
MyVariant Identifiers:
chr6:g.137193341A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872203A>T , CM000668.2:g.136872203A>T | GRCh38 |
| NC_000006.11:g.137193341A>T , CM000668.1:g.137193341A>T | GRCh37 |
| NC_000006.10:g.137235034A>T | NCBI36 |
| NG_008462.1:g.54624A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.753A>T MANE Select | ENSP00000315680.3:p.Ser251= | |
| ENST00000541292.6:c.*18A>T | ENSP00000441004.1:n.*18A>T | |
| ENST00000678002.1:c.441A>T | ||
| ENST00000678557.1:c.639A>T | ENSP00000502962.1:p.Ser213= | |
| ENST00000678593.1:c.758A>T | ENSP00000503841.1:n.758A>T | |
| ENST00000679286.1:c.633A>T | ENSP00000503168.1:p.Ser211= | |
| ENST00000318471.4:c.753A>T | ENSP00000315680.3:p.Ser251= | |
| NM_000288.3:c.753A>T | NP_000279.1:p.Ser251= | |
| XM_005267019.3:c.639A>T | XP_005267076.1:p.Ser213= | |
| XM_006715502.1:c.459A>T | XP_006715565.1:p.Ser153= | |
| XM_011535900.1:c.527-25939A>T | XP_011534202.1:n.527-25939A>T | |
| XM_005267019.4:c.639A>T | XP_005267076.1:p.Ser213= | |
| XM_006715502.2:c.459A>T | XP_006715565.1:p.Ser153= | |
| XM_017010934.2:c.527-25939A>T | XP_016866423.1:n.527-25939A>T | |
| NM_000288.4:c.753A>T MANE Select | NP_000279.1:p.Ser251= |