Linked Data
dbSNP Id:
rs1477776540
gnomAD v2:
6-33132682-T-G
gnomAD v3:
6-33164905-T-G
gnomAD v4:
6-33164905-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164905T>G , CM000668.2:g.33164905T>G | GRCh38 |
| NC_000006.11:g.33132682T>G , CM000668.1:g.33132682T>G | GRCh37 |
| NC_000006.10:g.33240660T>G | NCBI36 |
| NG_011589.1:g.32564A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.616A>C | ||
| ENST00000341947.7:c.4810A>C MANE Select | ENSP00000339915.2:p.Asn1604His | |
| ENST00000341947.6:c.4810A>C | ENSP00000339915.2:p.Asn1604His | |
| ENST00000361917.5:c.4489A>C | ENSP00000355123.1:p.Asn1497His | |
| ENST00000374708.8:c.4552A>C | ENSP00000363840.4:p.Asn1518His | |
| ENST00000477772.1:n.600A>C | ||
| NM_080679.2:c.4489A>C | NP_542410.2:p.Asn1497His | |
| NM_080680.2:c.4810A>C | NP_542411.2:p.Asn1604His | |
| NM_080681.2:c.4552A>C | NP_542412.2:p.Asn1518His | |
| XM_011514298.1:c.3964A>C | XP_011512600.1:p.Asn1322His | |
| XM_011514299.1:c.4096A>C | XP_011512601.1:p.Asn1366His | |
| XM_011514300.1:c.3916A>C | XP_011512602.1:p.Asn1306His | |
| XM_011514301.1:c.3853A>C | XP_011512603.1:p.Asn1285His | |
| XM_011514302.1:c.3697A>C | XP_011512604.1:p.Asn1233His | |
| XM_011514299.2:c.4096A>C | XP_011512601.1:p.Asn1366His | |
| XM_011514300.2:c.3916A>C | XP_011512602.1:p.Asn1306His | |
| XM_011514302.2:c.3697A>C | XP_011512604.1:p.Asn1233His | |
| XM_017010250.1:c.4810A>C | XP_016865739.1:p.Asn1604His | |
| XM_017010251.2:c.3628A>C | XP_016865740.1:p.Asn1210His | |
| NM_080680.3:c.4810A>C MANE Select | NP_542411.2:p.Asn1604His | |
| NM_080681.3:c.4552A>C | NP_542412.2:p.Asn1518His | |
| NM_080679.3:c.4489A>C | NP_542410.2:p.Asn1497His |