Canonical Allele Identifier: CA344455234
Gene: AVPR1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.206224823T>C (hg19) chr1:g.206116508A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116508A>G , CM000663.2:g.206116508A>G GRCh38
NC_000001.10:g.206224823T>C , CM000663.1:g.206224823T>C GRCh37
NC_000001.9:g.204391446T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367126.5:c.383T>C MANE Select ENSP00000356094.4:p.Met128Thr
ENST00000367126.4:c.383T>C ENSP00000356094.4:p.Met128Thr
ENST00000612906.1:n.36+1156T>C
NM_000707.3:c.383T>C NP_000698.1:p.Met128Thr
NM_000707.4:c.383T>C NP_000698.1:p.Met128Thr
NM_000707.5:c.383T>C MANE Select NP_000698.1:p.Met128Thr
Search 100 bp 5'
Search 100 bp 3'